RetNet:
Genes and Mapped Loci Causing Retinal Diseases

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Listed by chromosome:

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Total entries = 274. If you know the symbol but not the chromosome, please use the Symbols list to find a gene.


(Last updated March 10, 2014)



Chromosome 1

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
NPHP4, SLSN4;
606966, 606996, 607215
1p36.31 recessive Senior-Loken syndrome; recessive nephronophthisis, juvenile; protein: nephronophthisis 4 protein [Gene] linkage mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; Jobert syndrome is the same with additional cerebellar and cognitive abnormalities; NPHP4 protein interacts with NPHP1 protein Mollet 02; Otto 02; Schuermann 02
MFN2, CMT6, CMT2A2, MARF;
608507, 609260, 601152
1p36.22 dominant optic atrophy with neuropathy and myopathy; dominant Charcot-Marie-Tooth disease; protein: mitofusin 2 [Gene] candidate gene; dominant mutation in a large Turkish family; affected family members have early-onset optic atrophy and adult-onset neuropathy; dominant-acting MFN2 mutations are a common cause of CMT and hereditary motor and sensory neuropathy; MFN2 protein is involved in fusion of mitochondria and contributes to mitochondrial morphology and distribution Rouzier 12
NMNAT1, LCA9, PNAT1;
204000, 608553, 608700
1p36.22 recessive Leber congenital amaurosis; protein: nicotinamide nucleotide adenylyltransferase 1 [Gene] linkage mapping, whole-exome sequencing; a homozygous NMNAT1 mutation was found in the original, consanguineous, LCA9 Pakistani family and additional mutations found in many other LCA families; common findings include early-onset optic atrophy and neonatal degeneration of the central retina (colobomas); the NMNAT1 protein is a nuclear isoform of the rate-limiting enzyme in NAD+ synthesis and may serve a neuroprotective role Chiang 12; Falk 12; Keen 03; Koenekoop 12; Perrault 12
EMC1  1p36.13 recessive retinitis pigmentosa; protein: ER membrane protein complex subunit 1 [Gene] homozygosity mapping, whole-exome sequencing; rare, novel homozygous missense mutation in a multiplex Saudi RP family and the same homozygous mutation in an isolated Saudi RP patient; protein is a component of the endoplasmic reticulum with unknown function Abu-Safieh 13
PLA2G5;
601192
1p36.13-p36.12 recessive benign fleck retina; protein: phospholipase A2 group V [Gene] homozygosity mapping, whole-exome sequencing; homozygous mutation identified in a consanguineous family of South Asian origin; biallelic mutations found in additional families; symptoms include benign yellow-white retinal lesions or flecks with otherwise normal retinal findings; the PLA2G5 protein is a secretary phospholipase which plays a role in phagocytosis of photoreceptor outer segment discs by RPE cells Sergouniotis 11
DHDDS, RP59;
268000, 608172, 613861
1p36.11 recessive retinitis pigmentosa; protein: dehydrodolichyl diphosphate synthetase [Gene] homozygosity mapping, whole-exome sequencing; homozygous Lys42Glu mutation in an American family and 15 Israeli families of Ashkenazi Jewish origin; may account for 10% of recessive RP in Israel; the DHDDS gene is widely expressed, including in rod and cone photoreceptors; the protein is an enzyme in the dolichol synthesis pathway and dolichol is involved in biosynthesis of N-linked oligosaccharide chains on proteins such as rhodopsin; this mutation causes RP only but mutations in other genes affecting oligosaccharide synthesis cause multi-system disorders Haeuptle 09; Zelinger 11; Züchner 11
RPE65, LCA2, RP20;
180069, 204000, 204100
1p31.2 recessive Leber congenital amaurosis; recessive retinitis pigmentosa, dominant retinits pigmentosa with choroidal invlovlement; protein: retinal pigment epithelium-specific 65 kD protein [Gene] candidate gene; accounts for 2% of recessive RP and 6 to 16% of LCA; same as RPE65-/- Swedish Briard-Beagle dog; protein is necessary for production of 11-cis-vitamin A; 9-cis-retinal restores visual function in mouse model; successful gene therapy in dog; in same pathway as LRAT; dominant mutation in large Irish family with several members diagnosed with choroideremia Acland 01; Aguirre 98; Bowne 11; Gu 97; Hanein 04; Lotery 00; Marlhens 97; Morimura 98; Redmond 98; Van Hooser 00; Veske 99
ABCA4, ABCR, ARMD2, CORD3, RP19, STGD1;
120970, 153800, 248200, 601691, 601718, 603075, 604116
1p22.1 recessive Stargardt disease, juvenile and late onset; recessive macular dystrophy; recessive retinitis pigmentosa; recessive fundus flavimaculatus; recessive cone-rod dystrophy; protein: ATP-binding cassette transporter - retinal [Gene] linkage mapping, candidate gene; may be involved in age-related macular degeneration; same as ROS1.2 and rim protein, expressed in rod outer segment and foveal cones; ABCA4 mutation may increase severity of STGD3; flippase for all-trans retinal and N-retinylidene-PE Allikmets 97; Allikmets 97a; Allikmets 00; Cremers 98; Gerber 95; Gerber 98; Kaplan 93; Lewis 99; Martínez-Mir 97; Martínez-Mir 98; Maugeri 00; Molday 00; Nasonkin 98; Rozet 98; Stone 98; Sun 97; Sun 99; Weng 99; Zhang 99
RP32;
609913
1p21.2-p13.3 recessive retinitis pigmentosa, severe [Gene] linkage mapping; Pakistani family with early night blindness, complete loss of vision and macular degeneration Zhang 05
COL11A1, STL2;
120280, 154780, 604841
1p21.1 dominant Stickler syndrome, type II; dominant Marshall syndrome; protein: collagen, type XI, alpha 1 [Gene] linkage mapping, candidate gene; Stickler syndrome involves variable symptoms including facial-skeletal abnormalities, sensorineural hearing loss, and multiple ocular disorders such as glaucoma, myopia and retinal detachment; retinal findings are considered a consequence of vitreous abnormalities; see also COL2A1 and COL9A1 Annunen 99; Richards 96
GNAT2, ACHM4;
139340
1p13.3 recessive achromatopsia; protein: guanine nucleotide binding protein (G protein) cone-specifc transducin alpha subunit [Gene] candidate gene; total color blindness and other cone-related abnormalities (rod monochromacy); GNAT2 accounts for a minor fraction of achromatopsia cases whereas CNGA3 accounts for 20-30% and CNGB3 accounts for 40-50% Aligianis 02; Kohl 02
PRPF3, HPRP3, PRP3, RP18;
601414, 607301
1q21.2 dominant retinitis pigmentosa; protein: human homolog of yeast pre-mRNA splicing factor 3 [Gene] linkage mapping, candidate gene; English and Danish families; early onset night blindness; recurrent Thr494Met mutation; highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex including PRPF6, PRPF8 (RP13) and PRP31 (RP11) Chakarova 02; Heng 98; Xu 96a; Xu 98
SEMA4A, CORD10, SEMAB, RP35;
120970, 607292, 610282, 610283
1q22 dominant retinitis pigmentosa; dominant cone-rod dystrophy; protein: semaphorin 4A [Gene] candidate gene; several affected Pakistani families; semaphorins are a conserved family of proteins involved in neuronal development and/or immune response; SEMA4A is a transmembrane semaphorin (also called semaphorin B) which enhances T-cell activation; homozygous knockout mice have severe retinal degeneration Abid 06; Kumanogoh 02; Rice 04
CORD8;
120970, 605549
1q23.1-q23.3 recessive cone-rod dystrophy [Gene] linkage mapping; consanguineous Pakistani family Ismail 06; Khaliq 00
HMCN1, ARMD1, FBLN6;
603075, 608548
1q25.3-q31.1 dominant macular dystrophy, age-related; protein: hemicentin 1 (fibulin 6) [Gene] linkage mapping, candidate gene; a Gln5345Arg mutation that segregates with disease in one family is the probable cause of ARMD1; possible association with AMD but CFH is the more likely reason for association; fibulins are extracellular matrix proteins with multiple EGF domains, others include EFEMP1 and FBLN5 Klein 98; Schultz 03; Weeks 01
CFH, ARMD4, ARMS1, HF1;
134370, 603075, 609814, 610698
1q31.3 age-related macular degeneration, complex etiology; recessive drusen, early-onset; protein: complement factor H [Gene] linkage mapping, association study; a common histidine allele at a polymorphic Tyr402His site in control module 7 of CFH increases the life-time risk of AMD 2-to-7 fold; extended haplotypes including other complement genes also contribute; CFH and/or the haplotypes probably account for the AMD linkage peak at this location; rare recessive mutations in CFH cause nephropathy and hemolytic-uremic syndrome; mutations in trans to the His 402 variant cause early-onset drusen; AMD is also associated with complement genes C2, CFB and C3 Boon 08; Edwards 05; Hageman 01; Hageman 05; Haines 05; Hughes 06; Klein 05; Rodríguez de Córdoba 04; Zareparsi 05
CRB1, LCA8, RP12;
204000, 600105, 604210, 613835
1q31.3 recessive retinitis pigmentosa with para-arteriolar preservation of the RPE (PPRPE); recessive retinitis pigmentosa; recessive Leber congenital amaurosis; dominant pigmented paravenous chorioretinal atrophy; protein: crumbs homolog 1 [Gene] linkage mapping; homologous to Drosophila crumbs protein, possibly involved in cell-cell interactions and cell polarity; homozygous or compound heterozygous mutations in 10 unrelated patients; causes 9 to 13% of LCA; symptoms may include Coats-like exudative vasculopathy; mutations result in thick retina with abnormal lamination den Hollander 99a; den Hollander 01; Hanein 04; Heckenlively 82; Jacobson 03; Leutelt 95; Lotery 01; Lotery 01a; McKay 05; van Soest 94
FLVCR1, AXPC1;
609033, 609144
1q32.3 recessive retinitis pigmentosa with posterior column ataxia (PCARP); protein: feline leukemia virus subgroup C cellular receptor 1 [Gene] linkage mapping, sequencing; linkage mapping in a Dutch-German family and a Japanese family; PCARP is a rare, childhood-onset neurodegenerative syndrome involving spinal cord degeneration and RP; FLVR1 expression is most abundant in retina and secondarily in spinal cord and brain; function of the FLVCR1 protein is unknown but may involve heme/iron homeostasis Higgins 99; Ishiura 11; Rajadhyaksha 10
NEK2, NLK1;
604043
1q32.3 recessive retinitis pigmentosa; protein: NIMA (never in mitosis gene A)-related kinase 2 [Gene] whole-genome sequencing; a homozygous frameshift mutation detected in a Japanese RP patient and a different heterozygous mutation found in a second patient; the NEK2 gene product is a widely-expressed ciliary-associated protein involved in cell division and implicated in several cancers; NEK2 is expressed in retina and inactivation in zebra fish results in photoreceptor defects Nishiguchi 13
RD3, C1orf36, LCA12;
180040, 204000, 610612
1q32.3 recessive Leber congenital amaurosis; protein: RD3 protein [Gene] animal model, candidate gene; homozygous mutations in one LCA family; rd3 mouse has a recessive mutation in this gene which causes retinal degeneration with intact photoreceptors at birth but otherwise early onset and rapid progression; protein of unknown function Chang 93; Friedman 06
USH2A, RP39;
268000, 276901, 608400, 613809
1q41 recessive Usher syndrome, type 2a; recessive retinitis pigmentosa; protein: usherin [Gene] linkage mapping, candidate gene; usherin is a basement membrane protein, with laminin EGF and fibronectin type III domains, found in many tissues including capillary and structural basement membranes in retina and inner ear; causes 30 to 40% of USH type 2 and 10 to 15% of recessive RP; common ancestral c.2299delG mutation of European origin with atypical phenotype; Cys759Phe mutation found in 4 to 5% of recessive RP without hearing loss; an additional 51 exons have been identified; common c.4338delCT founder mutation in French Canadians and Acadians as is another in USH1C Bhattacharya 02; Ebermann 09a; Dreyer 01; Eudy 98; Kimberling 90; Kimberling 95; Lewis 90; Liu 99; Rivolta 00; Saouda 98; Seyedahmadi 04; van Wijk 04; Weston 00
SDCCAG8, BBS16, CCCAP, NPHP10, SLSN7;
266900, 613524, 613615
1q43 recessive nephronophthisis, ciliopathy-related; recessive Bardet-Biedl syndrome; protein: serologically-defined colon cancer antigen 8 [Gene] homozygosity mapping, whole-exome sequencing; 12 distinct mutations in 10 families; nephronophthisis-related ciliopathies involve dysplasia or degeneration of kidney, retina and/or cerebellum; BBS cases have early renal disease but not polydactyly; SDCCAG8 protein, first identified as a colon cancer antigen, localizes to centrioles and interacts with other ciliopathy-associated proteins including OFD1, and plays a broad role in kidney, retina and brain development Chaki 12; Otto 10; Schaefer 11

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Chromosome 2

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
ZNF513, RP58;
268000, 613598, 613617
2p23.3 recessive retinitis pigmentosa; protein: zinc finger protein 513 [Gene] linkage mapping, candidate gene; mapping in a consanguineous Pakistani family; zinc finger genes are a large family of expression factors, many with unknown specificity; ZNF513 is expressed in the retina, including photoreceptors; knockdown in zebrafish affects eye morphology and leads to loss of photoreceptors suggesting a role in retinal development and maintenance Li 10; Naz 10
C2orf71, RP54;
268000, 613425, 613428
2p23.2 recessive retinitis pigmentosa; protein: chromosome 2 open reading frame 71 [Gene] homozygosity mapping, candidate gene; Dutch, Israeli and other consanguineous families; C2orf71 is an open reading frame within a gene coding for a novel protein with no known homology; the gene is highly expressed in retina, primarily in photoreceptors, and the protein localizes to primary cilia; morpholino knockdown in zebrafish produces visual defects; the C2orfF71 gene is highly variable complicating mutation screening; mutations in this gene cause progressive retinal atrophy, rcd4, in Gordon Setter and Irish Setter dogs Collin 10; Downs 12; Nishimura 10; Sergouniotis 10
EFEMP1, DHRD, MTLV, FBLN3;
126600, 601548
2p16.1 dominant radial, macular drusen; dominant Doyne honeycomb retinal degeneration (Malattia Leventinese); protein: EGF-containing fibrillin-like extracellular matrix protein 1 (fibulin 3) [Gene] linkage mapping, candidate gene; Arg345Trp mutation found in all affected individuals to date; normal protein is secreted from RPE but mutant protein is misfolded and retained in RPE; both proteins accumulate between the RPE and drusen, but not within drusen; possible model for age- related macular degeneration; fibulins are extracellular matrix proteins with multiple EGF domains, others include FBNL5 and FBLN6; knock-in mouse shows AMD phenotype Edwards 98; Héon 96; Héon 96a; Kermani 99; Fu 07; Gregory 96; Marmorstein 02; Stone 99
FAM161A, RP28;
268000, 606068, 613596
2p15 recessive retinitis pigmentosa; protein: family with sequence similarity 161 member A [Gene] homozygosity mapping, candidate gene; consanguineous Indian family, and Israeli and German families; FAM161A codes for a protein of unknown function expressed in retina, brain and testis, but largely localized to photoreceptors Bandah-Rozenfeld 10a; Gu 99; Kumar 04; Langmann 10
WDPCP, BBS15, FRITZ;
209900, 613580
2p15 recessive Bardet-Biedl syndrome; protein: WD repeat-containing planar cell polarity effector [Gene] candidate gene; homozygous mutation in one BBS family; heterozygous variants may act as modifiers of BBS and Meckel-Gruber syndrome; protein plays a role in planar cell polarity during embryogenesis and may affect ciliogenesis Kim 10
ALMS1, ALSS;
203800
2p13.1 recessive Alström syndrome; protein: ALMS1 protein [Gene] homozygosity and linkage mapping, candidate gene; symptoms include RP (cone-rod dystrophy), cardiomyopathy, obesity and diabetes (similar to BBS); gene identified in balanced chromosomal translocation; widely expressed gene with product of unknown function; possible model for age- related macular degeneration Collin 97; Collin 99; Hearn 02; Macari 98
ABHD12, PHARC;
613599, 612674
2p11.21 recessive syndromic PHARC; recessive Usher syndrome, type 3-like; protein: abhydrolase domain containing protein 12 [Gene] linkage mapping, candidate gene, targeted NGS; mutations in ABHD12 cause PHARC in multiple families; PHARC is a neurodegenerative disease involving polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract; a homozygous ABHD12 mutation was identified in a Lebanese family with USH3-like findings and cataracts; ABHD12 enzyme hydrolyzes 2-arachidonoyl glycerol, an endocannabinoid lipid transmitter that acts on cannabinoid receptors Eisenberger 12; Fiskerstrand 10
CNGA3, ACHM2, CNCG3, RMCH2;
216900, 600053
2q11.2 recessive achromatopsia; protein: cone photoreceptor cGMP-gated cation channel alpha subunit [Gene] homozygosity mapping, candidate gene; total color blindness and other cone-related abnormalities (rod monochromacy); CNGA3 accounts for 20-30% of achromatopsia cases whereas CNGB3 accounts for uo to 50% and GNAT2 accounts for a minor fraction Arbour 97; Kohl 98; Kohl 02; Nishiguchi 05; Wissinger 98; Wissinger 01
CNNM4, ACDP4, LOC619531;
217080, 607805
2q11.2 recessive cone-rod dystrophy and amelogenesis imperfecta syndrome; protein: cyclin M4 [Gene] linkage mapping, candidate gene; also called Jalili syndrome, with cone-rod dystrophy and amelogenesis imperfecta (abnormal tooth enamel and development); more than 7 independently-ascertained families including a consanguineous Arab family and a Kosovo family; cyclin M4 protein is involved in metal ion transport, with expression in neural retina and developing teeth suggesting a connection between tooth biomineralization and retinal function Downey 02; Jalili 89; Michaelides 04; Parry 09; Polok 09
SNRNP200, ASCC3L1, BRR2, HECIC2, RP33;
601664, 610359
2q11.2 dominant retinitis pigmentosa; protein: small nuclear ribonucleoprotein 200kDa (U5) [Gene] linkage mapping, candidate gene; Chinese families (one is the family in which RP33 was mapped), in addition to several European families; also known as activating signal cointegrator I complex subunit 3-like 1, the gene is widely expressed and codes for a splice-complex protein as do several other dominant RP genes Benaglio 11; Li 09; Zhao 09; Zhao 06
MERTK, RP38;
268000, 604705, 613862
2q13 recessive retinitis pigmentosa; recessive rod-cone dystrophy, early onset; protein: c-mer protooncogene receptor tyrosine kinase [Gene] candidate gene; several affected families and a consangenious Middle Eastern family; human ortholog of the mouse Mertk gene; causes defective phagocytosis of photoreceptor outer segments by the RPE and retinal degeneration in the RCS rat; successful gene therapy in rat; expressed in multiple tissues including RPE/sclera D'Cruz 00; Gal 00; Mackay 10; Vollrath 01
NPHP1, JBTS4, SLSN1;
256100, 266900, 607100, 609583
2q13 recessive Senior-Loken syndrome; recessive nephronophthisis, juvenile; recessive Joubert syndrome; protein: nephronophthisis 3 protein [Gene] linkage mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; Jobert syndrome is the same with additional cerebellar and cognitive abnormalities; large NPHP1 deletions in most nephronophthisis cases; NPHP1 protein interacts with NPHP3 and NPHP4 proteins Antignac 93; Caridi 98; Hildebrandt 97; Mollet 02; Parisi 04; Saunier 97; Saunier 00
BBS5;
209900, 603650
2q31.1 recessive Bardet-Biedl syndrome; protein: flagellar apparatus-basal body protein DKFZp7621194 [Gene] linkage mapping, candidate gene; mutations found in several families with BBS mapped to 2q31; the BBS5 protein, identified by proteomics analysis of flagellar proteins, is a highly-conserved component of flagella and cilia, and may interact with BBS1; may account for 2% of BBS cases Beales 01; Li 04a; Young 99
CERKL, RP26;
608380, 608381
2q31.3 recessive retinitis pigmentosa; recessive cone-rod dystrophy with inner retinopathy; protein: ceramide kinase-like protein [Gene] linkage mapping, candidate gene; two Spanish families with the same homozygous mutation and families with other mutations; ceramide kinases are involved in neuronal cell survival and apopotosis; CERKL is expressed in retinal ganglion cells among other tissues; CERKL mutations cause widespread retinal degeneration with maculopathy Aleman 09; Bayés 98; Tuson 04
(- - -)  2q33.1-q24.2 cone-rod dystrophy, dominant linkage mapping; French family with maximum lod score of 2.9; candidate genes in region excluded by sequencing Manes 11
TMEM237, ALS2CR4, JBTS14;
213300, 614423, 614424
2q33.1 recessive Jobert syndrome; protein: transmembrane protein 237 [Gene] homozygosity mapping, whole-exome sequencing; homozygous mutation in Canadian Hutterite families with Joubert syndrome and other mutations in additional families; symptoms of Joubert syndrome include RP, polydactyly and brain abnormalities; the TMEM237 protein localizes to the ciliary transition zone (TZ) in multiple tissues, including photoreceptors, is a component of a complex interaction network in the TZ, and plays a role in ciliogenesis, gastrulation and Wnt signaling Huang 11
KCNJ13, LCA16, SVD;
204000, 193230, 603208, 614186
2q37.1 dominant vitreoretinal degeneration, snowflake; recessive Leber congenital amaurosis; protein: inwardly-rectifying potassium channel subfamily J member 13 [Gene] linkage mapping, candidate gene; dominant vitreoretinal disease in an American family of European origin with developmental and progressive abnormalities affecting multiple tissues of the eye including early-onset cataracts, retinal deposits and retinal detachment; recessive LCA in two consanguineous families without other ocular abnormalities; protein is a member of the Kir family (Kir7.1) of inwardly-rectifying potassium channels often involved in maintaining resting membrane potential Hejtmancik 08; Jiao 04a; Sergouniotis 11a
SAG, RP47;
181031, 258100, 268000
2q37.1 recessive Oguchi disease; recessive retinitis pigmentosa; protein: arrestin (s-antigen) [Gene] candidate gene; CSNB and fundus pallor in Japanese primarily; recessive RP in Japanese; see also GRK1 Fuchs 95; Maw 95; Nakazawa 98; Wada 96

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Chromosome 3

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
USH2B;
605472
not 3p24.2-p23 recessive Usher syndrome, type 2 [Gene] linkage exclusion; mapped to 3q in a consangeneous Tunisian family but later identified as a mutation in GPR98 Hmani 99; Hmani-Aifa 09; Pieke-Dahl 93
GNAT1, CSNBAD3;
139330, 310500, 610444
3p21.31 dominant congenital stationary night blindness, Nougaret type; recessive congenital stationary night blindness; protein: rod transducin alpha subunit [Gene] candidate gene; Gly38Asp mutation in a large French family; homozygous recessive mutation in a consanguineous Pakistani family; attenuates visual signaling and may affect taste perception Dryja 96; Maumenee-Hussels 96; Muradov 00; Naeem 12
LZTFL1, BBS17;
606568
3p21.31 recessive Bardet-Biedl syndrome with developmental anomalies; protein: leucine zipper transcription factor like-1 [Gene] homozygosity mapping, whole-exome sequencing; consanguineous family of Algerian descent; affected individuals have situs inversus and insertion polydactyly in addition to other BBS features; LZTFL1 protein is a negative regulator of the ciliary-associated BBS protein complex, the BBSome, and affects ciliary trafficking Marion 12; Seo 11
TREX1, AGS1, CHBL, CRV, RVCL;
192315, 225750, 606609, 610448
3p21.31 dominant retinal vasculopathy with cerebral leukodystrophy; dominant Aicardi-Goutiere syndrome 1, dominant chilblain lupus; protein: three-prime repair exonuclease 1 [Gene] linkage mapping, candidate gene; mapped in Dutch, Chinese and American families; retinal vasculopathy and cerebral leukodystrophy are progressive and have onset in middle age; TREX1 protein is a major 3'-5' DNA exonuclease that performs a proofreading function; symptoms of related disorders include microangiopathy, aneurysms and telangiectasia of retinal capillaries, often accompanied by numbness and cold sensitivity in fingers (Raynaud phenomenon), and CNS degeneration Grand 88; Jen 97; Ophoff 01; Richards 07
ATXN7, ADCA2, OPCA3, SCA7;
164500
3p14.1 dominant spinocerebellar ataxia w/ macular dystrophy or retinal degeneration; protein: ataxin 7 [Gene] linkage mapping, candidate gene; Moroccan, Belgian, French, Swedish, American and African-American families; shows anticipation with expanding CAG repeat in coding sequence of protein with unknown function; regional retinal dysfunction, cone-rod type Aleman 02; Benomar 95; David 97; Del Favero 98; Gouw 95; Holmberg 95
ARL6, BBS3, RP55;
209900, 268000, 608845, 613575
3q11.2 recessive Bardet-Biedl syndrome; protein: ADP-ribosylation factor-like 6 [Gene] homozygosity and linkage mapping, candidate gene; Bedouin, Saudi, American and Canadian families; mild phenotype with normal IQ, reversible obesity and polydactyly of the feet only in many patients; BBS proteins, probably including ARL6, play roles in ciliary function, and homologous sequences are found in ciliated microorganisms Beales 97; Beales 01; Chiang 04; Fan 04; Ingley 99; Jacobs 99; Sheffield 94; Woods 99; Young 98
IMPG2, RP56, SPARCAN;
268000, 607056, 613581
3q12.3 recessive retinitis pigmentosa; protein: interphotoreceptor matrix proteoglycan 2 [Gene] homozygosity mapping, candidate gene; mapping in a Dutch family and an Iraqi Jewish family with additional mutations in several populations; generally early onset RP but macuopathy in one case; protein is a component of the retinal intercellular matrix Bandah-Rozenfeld 10
IQCB1, NPHP5, SLSN5;
609237, 609254
3q13.33 recessive Senior-Loken syndrome; recessive Leber congenital amaurosis; protein: IQ motif containing B1 protein [Gene] linkage mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; homozygous mutations also found in several LCA patients, some of whom, but not all, later developed kidney disease; IQCB1 protein interacts with RPGR and calmodulin proteins in photoreceptor connecting cilia Estrada-Cuzcano 11; Otto 05
NPHP3, SLSN3;
604387, 606995, 608002
3q22.1 recessive Senior-Loken syndrome; recessive nephronophthisis, adolescent; protein: nephronophthisis 3 protein [Gene] linkage mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; NPHP3 protein interacts with NPHP1 protein; same gene affected in pcy mouse Olbrich 03; Omran 00; Omran 01; Omran 02
RHO, CSNBAD1, OPN2, RP4;
180380, 268000, 310500, 610445
3q22.1 dominant retinitis pigmentosa; dominant congenital stationary night blindness; recessive retinitis pigmentosa; protein: rhodopsin [Gene] linkage mapping, candidate gene; accounts for 30 to 40% of autosomal dominant RP; more than 100 distinct mutations but RhoPro23His causes 10% of adRP in US Caucasians; 'RP4' withdrawn; naturally occurring Thr4Arg mutation in English Mastiff dog Dryja 90; Dryja 90a; Dryja 91; Dryja 93; Farrar 90a; Kijas 02; McWilliams 89; Nathans 84; Rosenfeld 92
RP5  same as RHO not distinct from RHO/RP4 linkage mapping, mutation screening; mapping error; 'RP5' withdrawn Farrar 92
CLRN1, RP61, USH3, USH3A;
268000, 276902, 606397, 614180
3q25.1 recessive Usher syndrome, type 3; recessive retinitis pigmentosa; protein: clarin-1 [Gene] linkage mapping, candidate gene; clarin-1 is a novel, 4-transmembrane protein with a possible role in hair cell and photoreceptor synapses; accounts for 40% of Usher syndrome in Finland; possible digenic deafness with MYO7A; recessive RP with no hearing loss in two consanguineous Pakistani families Adato 99; Adato 02; Joensuu 01; Khan 11; Sankila 95
OPA1;
125250, 165500, 605290
3q29 dominant optic atrophy, Kjer type; dominant optic atrophy with sensorineural hearing loss; protein: OPA1 protein [Gene] linkage mapping, candidate gene; gene is widely expressed and abundant in retina; protein is a dynamin-related GTPase which localizes to mitochondria; OPA1 mutations cause 30 to 50% of dominant optic atrophy; disease may be a consequence of haploinsufficiency with reduced penetrance; a Utah OPA1 family has optic atrophy, sensorioneural hearing loss, ptosis and ophthalmoplegia, and polymorphic OPA1 alleles may be associated with normal tension glaucoma Alexander 00; Aung 02; Bonneau 95; Brown 97a; Delettre 00; Eiberg 94; Ferré 09; Johnston 97; Lunkes 95; Payne 04; Pesch 01; Seller 97; Toomes 01; Votruba 97; Votruba 98
PCYT1A;
123695
3q29 recessive cone-rod dystrophy with skeletal disease; protein: phosphate cytidylyltransferease 1 choline alpha [Gene] whole-exome sequencing; several simplex and multiplex recessive families identified with PCYT1A mutations; the disorder involves spondylometaphyseal dysplasia (SMD: short stature with vertebral and metaphyseal abnormalities) and CORD; other mutations cause muscular dystrophy without bone or retinal findings; the PCYT1A protein converts phosphocholine into cytidine diphosphate-choline, a key step in phosphatidylcholine synthesis Hoover-Fong 14; Yamamoto 14

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Chromosome 4

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
PDE6B, CSNB3, CSNBAD2, RP40;
163500, 180072, 268000, 310500, 613801
4p16.3 recessive retinitis pigmentosa; dominant congenital stationary night blindness; protein: rod cGMP phosphodiesterase beta subunit [Gene] linkage mapping, candidate gene; same as retinal degeneration in the rd mouse, r mouse and rcd1 Irish Setter dog; accounts for 3 to 4% of recessive RP; photoreceptor rescue with calcium-channel blocker in mouse but not dog Altherr 92; Bateman 92; Bayés 95; Bowes 90; Collins 92; Farber 92; Frasson 99; Gal 94; Gal 94a; McLaughlin 93; McLaughlin 95; Pearce-Kelling 01; Piriev 98; Pittler 91; Pittler 93; Suber 93; Valverde 95; Weber 91
WFS1, DFNA38;
222300, 598500
4p16.1 recessive Wolfram syndrome; dominant low frequency sensorineural hearing loss; protein: wolframin [Gene] linkage mapping, candidate gene; symptoms of recessive disease include diabetes, optic atrophy and deafness; often associated with multiple mitochondrial deletions; symptoms of dominant disease include non-syndromic low frequency loss without profound deafness; distinct from WFS2 Barrientos 96; Barrientos 96a; Bespalova 01; Collier 96; Inoue 98; Polymeropoulos 94; Strom 98a; Young 01
CC2D2A, JBTS9, MKS6;
216360, 612013, 612284, 612285
4p15.33 recessive retinitis pigmentosa and mental retardation; recessive Joubert syndrome; protein: coiled-coil and C2 containing 2A protein [Gene] homozygosity mapping, candidate gene; homozygous mutation in CC2D2A in a consanguineous Pakistani family with 5 retarded individuals, all with accompanying RP; the CC2D2A protein is widely expressed and may play a role in calcium-dependent signal transduction; Joubert syndrome, also known as cerebello-oculo-renal syndrome, involves highly variable cerebellar and cognitive abnormalities, cystic kidney disease (nephronophthisis), and retinitis pigmentosa or Leber congenital amaurosis; related diseases caused by recessive CC2D2A mutations include COACH syndrome and Meckel syndrome Gorden 08; Noor 08
RAB28;
612994
4p15.33 recessive cone-rod dystrophy; protein: RAB28 member of RAS oncogene family [Gene] homozygosity mapping, whole-exome sequencing; German and Moroccan-Jewish families; symptoms include progressive cone-rod dystrophy, loss of visual function, hyperpigmentation of the macula and RPE atrophy, starting in childhood or teens; RAB28 proteins localize to the photoreceptor basal body and may be involved in ciliary transport Roosing 13
PROM1, CORD12, MCDR2, PROML1, RP41, STGD4;
120970, 268000, 603786, 604365, 608051, 612095, 612657
4p15.32 recessive retinitis pigmentosa with macular degeneration; dominant Stargardt-like macular dystrophy; dominant macular dystrophy, bull's-eye; dominant cone-rod dystrophy; protein: prominin 1 [Gene] homozygosity mapping, candidate gene; British, Caribbean, Indian and Pakistani families; severe visual impairment with onset in childhood in recessive families; prominin is a 5-transmembrane glycoprotein associated with plasma membrane evaginations in rod outer segments; recurrent, dominant Arg377Cys (C→T) mutation in human families disrupts disk morphogenesis in mice Kniazeva 99; Maw 00; Michaelides 03; Yang 08a; Zhang 07
GPR125, PGR21, TEM5L;
612303
4p15.2 recessive retinitis pigmentosa; protein: G protein-coupled receptor 125 [Gene] homozygosity mapping, whole-exome sequencing; rare, novel homozygous frame-shift mutation in an isolated Saudi RP patient and a novel splice-site mutation in a second isolated Saudi RP patient; protein is a G protein-coupled receptor of unknown function Abu-Safieh 13
DTHD1  4p14 recessive Leber congenital amaurosis with myopathy; protein: death domain containing protein 1 [Gene] homozygosity mapping, whole-exome sequencing; rare, novel homozygous single-nucleotide substitution affecting start of translation in a multiplex Saudi LCA family with mild-to-moderate muscle dystrophy; protein of unknown function Abu-Safieh 13
WDR19, ATD5, CED4, NPHP13, IFT144, PWDMP;
208500, 218330, 256100, 608151, 614376, 614378
4p14 recessive renal, skeletal and retinal anomalies; protein: WD repeat domain 19 protein [Gene] whole-exome sequencing; in addition to retinal anomalies (RP), recessive mutations in WDR19 cause a wide range of diseases and symptoms including asphyxiating thoracic dysplasia (Jeune syndrome), cranioectodermal dysplasia (Sensenbrenner syndrome) and nephronophthisis; the WDR19 protein is a member of the intraflagellar transport A complex involved in ciliary function Bredrup 11
CNGA1, CNCG, CNCG1, RP49;
123825, 268000, 613756
4p12 recessive retinitis pigmentosa; protein: rod cGMP-gated channel alpha subunit [Gene] candidate gene; nonsense, missense and deletion mutations in four RP families Dhallan 92; Dryja 95; Griffin 93
WFS2;
604928
4q22-q24 recessive Wolfram syndrome; dominant [Gene] homozygosity mapping, linkage mapping; symptoms include diabetes, optic atrophy and deafness; three Jordanian families; distinct from WFS1 El-Shanti 00
MTTP, ABL, MTP;
200100, 157147
4q23 recessive abetalipoproteinemia; protein: microsomal triglyceride transfer protein [Gene] candidate gene; multiple lipid abnormalities including pigmentary retinal degeneration Narcisi 95; Sharp 93; Shoulders 93
LRIT3, FIGLER4;
615004
4q25 recessive congenital stationary night blindness, complete; protein: leucine-rich repeat immunoglobulin-like transmembrane domains protein 3 [Gene] whole-exome sequencing; distinct compound heterozygous mutations in two isolated cases; function of the gene product is unknown but the protein localizes to the outer plexiform layer of the retina in a pattern similar to other CSNB proteins Zeitz 13
BBS7, BBS2L1;
209900, 607590
4q27 recessiveBardet Biedl syndrome; protein: BBS7 protein [Gene] candidate gene; homozygous mutations in several families; protein of unknown function with sequence similarity to BBS2 Badano 03
BBS12, FLJ35630;
209900, 610683
4q27 recessive Bardet-Biedl syndrome; protein: BBS12 protein [Gene] homozygosity mapping; mapping in Gypsy families and mutations in other families; the BBS12 gene is 1 mb from the BBS7 gene which was excluded by sequencing; protein has sequence similarity to other BBS genes and is a member of the type II chaperonin superfamily with possible ciliary function Stoetzel 07
RP29;
268000, 612165
4q32-q34 recessive retinitis pigmentosa [Gene] linkage mapping; consanguineous Pakistani family Hameed 01
LRAT, LCA14;
204000, 604863, 613341
4q32.1 recessive retinitis pigmentosa, severe early-onset; recessive Leber congenital amaurosis; protein: lecithin retinol acyltransferase [Gene] candidate gene; gene is expressed in RPE; protein catalyzes first step in visual cycle transforming vitamin A into 11-cis-retinol; same pathway as RPE65 Ruiz 99; Ruiz 01; Thompson 01; Xiao 11
TLR3;
603029
4q35.1 age-related macular degeneration, complex etiology; protein: toll-like receptor 3 [Gene] candidate gene, association study; based on the possible role of TLR4 in AMD, association was tested to a TLR3 Leu412Phe polymorphism (rs3775291) in AMD patients with geographic atrophy; the Phe allele was protective in the original and replicate samples; subsequent studies failed to confirm this finding; toll-like receptors recognize microorganisms and then initiate an immune response Allikmets 09; Edwards 09; Yang 08b
CYP4V2, BCD;
210370
4q35.2 recessive Bietti crystalline corneoretinal dystrophy; protein: cytochrome P450 4V2 [Gene] linkage mapping, candidate gene; symptoms include RP and glistening crystals in the retina, cornea and lymphocytes; more common in Asians; gene is a member of the cytochrome P450 superfamily, homologous to mouse CYP4V3; protein may play a role in fatty acid and steroid metabolism; one mutation, c.802-8_810del17insGC, accoounts for 65% of alleles in Chinese patients Jiao 00; Li 04; Xiao 11

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Chromosome 5

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
MCDR3;
608850
5p15.33-p13.1 dominant macular dystrophy [Gene] linkage mapping; overlapping map locations in a British and a Danish family; clinically similar to North Carolina macular dystrophy, MCDR1 Michaelides 03a; Rosenberg 10
VCAN, CSPG2, ERVR, WGN1;
118661, 143200
5q14.3 dominant Wagner disease and erosive vitreoretinopathy; protein: chondroitin sulfate proteoglycan 2 (versican) [Gene] linkage mapping, candidate gene; intronic mutations in several families including the original Wagner family; disease may be a consequence of an imbalance in the ratio of normal splice variants; vitreoretinopathy alone (Brown 95) or with ocular abnormalities (Black 99a) are allelic; versican is a component of extracellular matrix in the vitreous and binds to hyaluronan and link protein to form aggregates which maintain structural integrity Black 99a; Brown 95; Kloeckener-Gruissem 06; Miyamoto 05; Mukhopadhyay 06
GPR98, FEB4, MASS1, USH2C, VLGR1;
602851, 604352, 605472
5q14.3 recessive Usher syndrome, type 2; dominant/recessive febrile convulsions; protein: monogenic audiogenic seizure susceptibility 1 homolog [Gene] linkage mapping, candidate gene; five unrelated families with mild RP and possible dental abnormalities but without seizures; protein is a very large cell-surface calcium-binding G protein-coupled receptor; same gene as in recessive Frings mouse with seizures from sudden noise, and humans with febrile seizures; originally believed limited to females, but in males too; USH2B family later assigned to GRP98 Ebermann 09; Hilgert 09; McMillan 02; Nakayama 02; Pieke-Dahl 00; Weston 04
BSMD;
608970
5q21.2-q33.2 dominant macular dystrophy, butterfly-shaped linkage mapping; Dutch family; other butterfly dystrophy loci excluded; 52 Mb critical region den Hollander 04
HARS, HRS, USH3B;
614504, 142810
5q31.3 recessive Usher syndrome; protein: histidyl-tRNA synthetase [Gene] homozygosity mapping, whole-exome sequencing; homozygous Tyr454Ser mutations in a Mennonite (Plain) family in Pennsylvania and in an unrelated Old Order Amish family in Canada; the Tyr454Ser variant has an allele frequency of 1.5% in Old Order Amish; disease symptoms are consistent with Usher syndrome III but also include motor development delay, truncal ataxia and gait abnormalities; some affected children have infection-induced hallucinations (Charles Bonnet syndrome) and rare sudden death; the HARS protein is an enzyme which catalyzes the synthesis of histidyl-transfer RNA (his-tRNA); his-tRNA, in turn, is necessary for incorporation of histidine into proteins Puffenberger 12
PDE6A, RP43;
180071, 268000, 613810
5q33.1 recessive retinitis pigmentosa; protein: cGMP phosphodiesterase alpha subunit [Gene] candidate gene; homozygote and compound heterozygote mutations; causes 3 to 4% of recessive RP in North America; same as PRA in Cardigan Welsh corgi dog Dryja 99; Huang 95; Peterson-Jones 99; Pittler 90
GRM6, CSNB1B;
257270, 310500, 604096
5q35.3 recessive congenital stationary night blindness; protein: metabotropic glutamate receptor 6 [Gene] candidate gene; null mutations in patients with CSNB and defective cone ON ERG responses; distinctive, abnormal rod ERG response to 15 Hz flicker; GRM6 expression is restricted to cone ON bipolar cells and protein is a receptor for neurotransmitter glutamate released from rods and cones; mouse knockout shows absent ON response Dryja 05; Masu 95; Zeitz 05

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Chromosome 6

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
MAK, RP62;
154235, 268000, 614181
6p24.2 recessive retinits pigmentosa; protein: male germ-cell associated kinase [Gene] whole-exome sequencing; exome sequencing identified a homozygous Alu insertion in 21 independently-ascertained probands with recessive RP, all of Jewish ancestry; exome sequencing and cis-regulatory mapping identified nonsense and missense mutations in Turkish and Dutch RP families; MAK is expressed in multiple tissues including spermatogonia and retina; the protein is a kinase involved in regulation of retinal cilium and spermatogenesis Omori 10; Özgül 11; Stone 11; Tucker 11
C2;
217000
6p21.32 age-related macular degeneration, complex etiology; protein: complement component 2 [Gene] association study; C2 and CFB are contiguous genes within 500 bp of each other with multiple variants in high linkage disequilibrium; certain C2-CFB haplotypes significantly increase the risk of AMD and others are protective; both proteins have roles in innate immunity and inflammation; deficiency of C2 is associated with autoimmune disease; AMD is also associated with complement genes C3 and CHF Gold 06
CFB, BF, BFD;
138470
6p21.32 age-related macular degeneration, complex etiology; protein: complement factor B, properdin [Gene] association study; see C2 for details; properdin is a component of the alternate pathway for complement activation Gold 06
TULP1, LCA15, RP14;
204000, 600132, 602280, 613843
6p21.31 recessive retinitis pigmentosa; recessive Leber congenital amaurosis; protein: tubby-like protein 1 [Gene] linkage mapping, candidate gene; two Dominican families and others; protein localizes to developing and adult rods and cones; possibly involved in transport of rhodopsin from inner to outer segment; a similar gene in tub mouse causes obesity, deafness and retinal degeneration; the TULP1gene shares homology with the TUB gene associated with recessive retinal dystrophy and obesity Banerjee 98; Banerjee 98a; Gu 98; Hagstrom 98; Hagstrom 01; Hanein 04; Knowles 94; Milam 00
PRPH2, CACD2, RDS, RP7;
169150, 179605, 608133, 608161, 613105
6p21.1 dominant retinitis pigmentosa; dominant macular dystrophy; digenic retinitis pigmentosa with ROM1; dominant adult vitelliform macular dystrophy; dominant cone-rod dystrophy; dominant central areolar choroidal dystrophy; protein: peripherin 2 [Gene] linkage mapping, candidate gene; dominant mutations; in addition, heterozygote PRPH2 and ROM1 mutations cause digenic disease; accounts for 5% of dominant RP; same gene affected in rds mouse; photoreceptor rescue in mouse model; USH1H is a digenic form of Usher syndrome Ali 00; Arikawa 92; Boon 09; Connell 90; Connell 91; Dryja 97; Farrar 91; Felbor 97a; Jordan 92a; Kajiwara 91; Kajiwara 94; Nakazawa 94a; Travis 91; Travis 91a
GUCA1A, COD3, CORD14, GCAP1;
120970, 602093, 600364
6p21.1 dominant cone dystrophy; dominant cone-rod dystrophy; protein: guanylate cyclase activating protein 1A [Gene] linkage mapping, candidate gene; British family with constitutively active mutant; variable phenotype within families Downes 01; Payne 97; Payne 98; Sokal 98
GUCA1B, GCAP2, RP48;
268000, 602275, 613827
6p21.1 dominant retinitis pigmentosa; dominant macular dystrophy; protein: guanylate cyclase activating protein 1B [Gene] candidate gene; Gly157Arg mutation in Japanese families with variable phenotype; no pathologic changes found in 400 British patients with dominant retinopathies Payne 99a; Sato 04
BCAMD, MCDCA;
153870
6p12.3-q16 dominant macular dystrophy, benign concentric annular linkage mapping; Dutch family; suggestive evidence for a mutation in IMPG1 van Lith-Verhoeven 04
EYS, RP25, SPAM;
602772
6q12 recessive retinitis pigmentosa; protein: eyes shut/spacemaker (Drosophila) homolog [Gene] homozygosity mapping, linkage mapping, candidate gene; Spanish and Pakistani families; accounts for 10 to 20% of recessive RP in Spain and 12% in France, and is a common cause of RP in China; the EYS gene, one of the largest human genes (2.0 mb), codes for a 3,165 AA extracellular matrix protein; EYS is a composite of EGFL11 and Drosophila eys proteins and contains at least 21 EGF and 5 LamG domains; mutations in Drosophila eys cause structural abnormalities in rhabdomeres; gene missing or non-functional in some mammals, including mouse Abd El-Aziz 06; Abd El-Aziz 08; Abd El-Aziz 08a; Audo 10; Barragán 08; Collin 08; Khaliq 99; Ruiz 98
COL9A1;
120210
6q13 recessive Stickler syndrome; dominant multiple epiphyseal dysplasia (MED); protein: collagen, type IX, alpha-1 [Gene] candidate gene; Stickler syndrome (which is usually dominant) involves variable symptoms including facial-skeletal abnormalities, sensorineural hearing loss, and multiple ocular disorders such as glaucoma, myopia and retinal detachment; recessive COL9A1 mutations in one consanguineous family; see also COL2A1 and COL11A1 Van Camp 06
RIMS1, CORD7, RIM1;
120970, 603649, 606629
6q13 dominant cone-rod dystrophy; protein: regulating synaptic membrane exocytosis protein 1or rab3A-interacting molecule [Gene] linkage mapping, candidate gene; expressed in brain and photoreceptors; protein localizes to ribbon synapses and interacts with RAB3A, a protein that regulates synaptic vesicle exocytosis; claim of enhanced cognition in affected individuals Johnson 03; Kelsell 98; Kniazeva 99a; Sisodiya 07; Wang 97; Wang 00
MCDR1, NCMD, PBCRA1;
136550, 600790
6q14-q16.2 dominant macular dystrophy, North Carolina type; dominant progressive bifocal chorioretinal atrophy [Gene] linkage mapping; North Carolina, German, Belizean and British families; MCDR1 is clinically distinct from PBCRA (same locus) but similar to MCDR3 (different locus); current linkage interval is 3 cM (1.8 mb); no potential MCDR1 mutation found in IMPG1 Gehrig 98; Kelsell 95; Rabb 98; Sauer 97a; Small 92; Small 97; Small 99; Yang 08
ELOVL4, STGD3;
600110, 605512
6q14.1 dominant macular dystrophy, Stargardt-like; protein: elongation of very long fatty acids protein [Gene] linkage mapping, candidate gene; large North American family with 5 bp deletion; protein is a photoreceptor-specific component of the fatty acid elongation system, consistent with suggested modifying role of ABCA4; mapping overlaps with CORD7; MCRD1 excluded; includes STGD2 Edwards 01; Griesinger 00; Kniazeva 99a; Kniazeva 00; Lagali 00; Stefko 00; Stone 94; Zhang 99; Zhang 01
IMPG1, SPARC;
153870, 600790, 602870
6q14.1 dominant macular dystrophy, vitelliform; recessive macular dystrophy, vitelliform; protein: interphotoreceptor matrix proteoglycan 1 [Gene] linkage mapping, candidate gene, whole-exome sequencing; an identical dominant missense mutation found in three European families and homozygous and compound heterozygous mutations found in two recessive families; an IMPG1 mutation may also account for dominant benign concentric annular macular dytrophy (BCAMD); the IMPG1 protein is a component of the photoreceptor extracellular matrix; mutations in other extracellular matrix proteins also cause vitelliform macular dystrophy, suggesting a common disease mechanism Gehrig 98; Manes 13; van Lith-Verhoeven 04
LCA5;
204000, 604537, 611408
6q14.1 recessive Leber congenital amaurosis; protein: lebercilin [Gene] homozygosity mapping, linkage mapping; Pakistani, American Old Order River Brethren, and European families with homozygous mutations in lebercilin, including the original LCA5 family; the LCA5 gene is widely expressed and abundant in retina; lebercilin localizes to photoreceptor connecting cilia, and other cilia and microtubules, and interacts with numerous ciliary proteins including OFD1; although LCA5 mutations might, theoretically, cause complex ciliopathies, null mutations affect the retina only den Hollander 07; Dharmaraj 00
RP63;
268000, 614494
6q23 dominant retinits pigmentosa linkage mapping; linkage in an Indian family with a maximum two-point LOD score of 3.8 Kannabiran 12
AHI1, JBTS3;
608629, 608894
6q23.3 recessive Joubert syndrome; protein: Abelson helper integration site 1 [Gene] homozygosity and linkage mapping, candidate gene; Joubert syndrome, also known as cerebello-oculo-renal syndrome, involves highly variable cerebellar and cognitive abnormalities, cystic kidney disease (nephronophthisis), and retinitis pigmentosa or Leber congenital amaurosis Dixon-Salazar 04; Ferland 04; Lagier-Tourenne 04; Parisi 06
PEX7, PTS2R, RCDP1;
215100, 266500, 601757
6q23.3 recessive Refsum disease, adult form; protein: peroxisome biogenesis factor 7 [Gene] linkage mapping, candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cerebellar ataxia and additional findings; also known as Zellweger syndrome, phytanic acid storage disease and other disorders; see also PEX1, PHYH and PXMP3 Braverman 97; Motley 97; Purdue 97; van den Brink 03
RCD1;
180020
6q25-q26 dominant retinal-cone dystrophy 1 [Gene] deletion mapping OMIM 14

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Chromosome 7

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
MDDC, CYMD;
153880
7p21-p15 dominant macular dystrophy, cystoid [Gene] linkage mapping; distinct from RP9 Inglehearn 94a; Kremer 94
KLHL7, RP42;
268000, 611119, 612943
7p15.3 dominant retinitis pigmentosa; protein: kelch-like 7 protein (Drosophila) [Gene] linkage mapping, candidate gene; six independent families; accounts for 1 to 2% of autosomal dominant RP cases; the locus is outside of the RP9 linkage region; KLHL7 is a member of the BTB-Kelch superfamily (containing a series of Drosophila protein motifs) and plays a role in the ubiquitin-proteasome pathway leading to protein degradation Friedman 09
BBS9, PTHB1;
209900, 607968
7p14.3 recessive Bardet Biedl syndrome; protein: parathyroid hormone-responsive B1 protein [Gene] homozygosity mapping, candidate gene; several small, consanguineous families; identified by a combination of mapping, comparative genomic analysis and gene expression studies; expression is down regulated by PTH but function of protein is unknown Nishimura 05
RP9, PAP1, PIM1K;
180104, 607331
7p14.3 dominant retinitis pigmentosa; protein: RP9 protein or PIM1-kinase associated protein 1 [Gene] linkage mapping, candidate gene; mutations in PAP1 may cause the RP9 form of RP but there is doubt - the original His137Leu "mutation" may be a paralogous variant (concurrent sequence from a gene and a pseudogene) and no additional mutations have been reported to segregate with disease; PAP1 is a widely-expressed gene; protein has a role in pre-mRNA splicing and interacts with a U2-complex splice factor Inglehearn 93; Inglehearn 94b; Inglehearn 98; Keen 95; Keen 02; Kim 95; Maita 04; Sullivan 06
PEX1, IRD;
202370, 214100, 266510, 602136
7q21.2 recessive Refsum disease, infantile form; protein: peroxisome biogenesis factor 1 [Gene] candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cerebellar ataxia and additional findings; also known as Zellweger syndrome, phytanic acid storage disease and other disorders; see also PEX7, PHYH and PXMP3 Portsteffen 97; Reuber 97
TSPAN12, NET2;
613138
7q31.31 dominant familial exudative vitreoretinopathy; protein: tetraspanin 12 [Gene] linkage mapping, whole-exome sequencing, candidate gene; linkage mapping in large Dutch families, also homozygous knockout mouse model; TSPAN12 is a member of the tetraspanin transmembrane 4 superfamily; common cause of FEVR; TSPAN12, FZD4, LRP5 and NDP proteins are components of Wnt signaling pathways involved in cell adhesion and migration including retinal angiogenesis Junge 09; Nikopoulos 10; Poulter 10
IMPDH1, LCA11, RP10;
146690, 204000, 180105, 613837
7q32.1 dominant retinitis pigmentosa; dominant Leber congenital amaurosis; protein: inosine monophosphate dehydrogenase 1 [Gene] linkage mapping, candidate gene; Spanish, Scottish and American families; IMPDH1 is one of two widely-expressed isoforms in humans; IMPDH's are highly-conserved enzymes, found in bacteria and eukaryotes, which catalyzes the rate-limiting step in de novo guanine synthesis; a common IMPDH1 mutation, Asp226Asn, is at a site conserved in all species and accounts for at least 2% of all dominant RP; mutations affect polynucleotide binding (e.g., to rhodopsin mRNA) by the CBS domains but not enzyme activity Bowne 02; Bowne 06; Daiger 97; Jordan 93; Kennan 02; McGuire 95; McGuire 96; Millán 95; Mohamed 96; Mortimer 05; Mortimer 08
OPN1SW, BCP, CBT;
190900
7q32.1 dominant tritanopia; protein: blue cone opsin [Gene] candidate gene; several mutations; progressive retinopathy not observed Fitzgibbon 94; Nathans 86; Nathans 92; Nathans 93; Weitz 92; Weitz 92a
KIAA1549;
613344
7q34 recessive retinitis pigmentosa; protein: KIAA1549 protein [Gene] homozygosity mapping, whole-exome sequencing; rare, novel homozygous frame-shift mutation in a multiplex Saudi RP family; protein of unknown function Abu-Safieh 13

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Chromosome 8

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
RP1L1;
608581
8p23.1 dominant occult macular dystrophy; protein: retinitis pigmentosa 1-like protein 1 [Gene] linkage mapping, candidate gene; mapping and sequencing candidate genes in Japanese families with occult macular dystrophy (OMD) revealed a missense mutation in three families and a second mutation in a fourth family; OMD involves central cone dysfunction and loss of vision with a normal-appearing retina; RP1L1 and RP1 proteins are 35% identical and interact with photoreceptor connecting cilia; the RP1L1 gene is highly variable complicating mutation screening Akahori 10; Bowne 03; Conte 02; Yamashita 09
ADAM9, CORD9, MCMP, MDC9;
120970, 602713, 612775
8p11.23 recessive cone-rod dystrophy; protein: ADAM metallopeptidase domain 9 (meltrin gamma) protein [Gene] linkage mapping, candidate gene; four consanguineous families including the original Brazilian CORD9 family; early onset in humans with loss of peripheral and central vision; widely expressed gene; homozygous knockout mouse has mild retinopathy and no other overt symptoms; ADAM9 protein is involved in cell-matrix interactions and acts as an adhesion molecule binding integrins Danciger 01; Parry 09a; Weskamp 02
RP1, ORP1;
180100, 603937
8q12.1 dominant retinitis pigmentosa; recessive retinitis pigmentosa; protein: RP1 protein [Gene] linkage mapping, candidate gene; causes 5 to 10% of adRP; large Kentucky family and others; highly variable expression; two common mutations, Arg677X and 2280del4; protein is photoreceptor-specific, with similarity to doublecortin, and localizes to connecting cilia; homozygous insertions and deletions in Pakistani families; mutations in a similar gene, RP1L1, also cause retinal disease; common recessive Ser542X founder mutation in Spanish patients Avila-Fernandez 12; Blanton 91; Bowne 99; Daiger 97; Guillonneau 99; Jacobson 00; Khaliq 05; Liu 02; Pierce 99; Riazuddin 05; Roderick 97; Sadler 93; Sullivan 99; Xu 96
TTPA;
600415
8q12.3 recessive retinitis pigmentosa and/or recessive or dominant ataxia; protein: alpha-tocopherol-transfer protein [Gene] candidate gene; TPA mutations found in patients with vitamin E deficiency Yokota 96
CSPP1;
611654, 213300, 249000
8q13.1-q13.2 recessive Jobert syndrome; protein: centrosome and spindle pole associated protein 1 [Gene] whole-exome sequencing; multiple families identified with Joubert syndrome, Meckel-Gruber syndrome and/or other highly-variable ciliopathy findings caused by recessive mutations in CSPP1; mutations in CSPP1 may account for up to 5% of Joubert syndrome cases; possible symptoms include skeletal dysplasias, asphyxiating thoraic dystrophy, brain abnormalities and retinal dystrophy; the CSPP1 protein, like other Joubert syndrome proteins, interacts with the spindle apparatus in dividing cells, and with primary cilia in liver, kidney and retinal cells Akizu 14; Shaheen 14; Tuz 14
OPA6, ROA1;
165500, 258500
8q21-q22 recessive optic atrophy [Gene] linkage mapping; large, multiplex, consanguineous French family Barbet 03
PXMP3, PAF1, PEX2, PMP35;
170993, 214100, 266510
8q21.13 recessive Refsum disease, infantile form; protein: peroxisomal membrane protein 3 [Gene] candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cerebellar ataxia and additional findings; also known as Zellweger syndrome, phytanic acid storage disease and other disorders; see also PEX1, PEX7 and PHYH Gartner 92; Shimozawa 92
CNGB3, ACHM3, RMCH1;
216900, 248200, 262300, 605080
8q21.3 recessive achromatopsia Pingelapese; recessive, progressive cone dystrophy; protein: cone cyclic nucleotide-gated cation channel beta 3 subunit [Gene] linkage mapping, candidate gene; symptoms include total color blindness, photophobia and nystagmus; European and American families, and 4-10% of Pingelapese on the Eastern Caroline Islands; protein generates cone electrical response; common 1148delC mutation; CNGB3 accounts for up 50% of achromatopsia cases whereas CNGA3 accounts for 20-30% and GNAT2 accounts for a minor fraction; same as cd in Alaskan Malamute and German Pointer dogs; ACHM1 family reassigned to CNGB3 Kohl 00; Kohl 02; Kohl 05; Michaelides 04a; Milunsky 99; Nishiguchi 05; Pentao 92; Sidjanin 02; Sundin 00; Winick 99
C8orf37, CORD16, RP64;
120970, 268000, 614477, 614500
8q22.1 recessive cone-rod dystrophy; recessive retinitis pigmentosa with early macular involvement; protein: chromosome 8 open reading frame 37 [Gene] homozygosity mapping, whole-exome sequencing; homozygous mutation in an Israeli family and additional homozygous mutations in other families, original mutation has an allele frequency of greater than 1% in Israelis of Druze origin; the C8otf37 protein, of unknown function, localizes to the base of cilia in retinal photoreceptors and RPE cells Estrada-Cuzcano 12; van Huet 13
VMD1;
153840
not 8q24 dominant macular dystrophy, atypical vitelliform [Gene] linkage exclusion; linked to GPT but later excluded Daiger 97; Ferrell 83; Leach 96; Sohocki 97

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Chromosome 9

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
KCNV2, RCD3B;
607604, 610356
9p24.2 recessive cone dystrophy with supernormal rod electroretinogram; protein: potasium channel subfamily V member 2 [Gene] homozygosity mapping, candidate gene; mutations in several unrelated families; symptoms include progressive visual loss with supernormal ERG response to a bright flash of light - suggesting an abnormal potassium current in photoreceptor inner segments; protein (also called Kv11.1) is expressed in rods and cones and must coassemble with other subunits to form an active voltage-gated potassium channel Ottschytsch 02; Wu 06
TOPORS, LUN, P53BP3, RP31;
609507, 609923
9p21.1 dominant retinitis pigmentosa; protein: topoisomerase I binding arginine/serine rich protein [Gene] linkage mapping, candidate gene; RP31 mapped in a French Canadian family, TOPORS mutations also found in European families; early symptoms include a perivascular cuff of RPE atrophy surrounding the superior and inferior retinal arcades, later progressing to diffuse pigmentary retinopathy; TOPORS protein is widely expressed and localizes to the basal body of connecting cilia in photoreceptors; morpholino silencing in zebrafish affects retinal development Chakarova 07; Chakarova 11; Papaioannou 05
INVS, NPHP2;
243305, 602088
9q31.1 recessive Senior-Loken syndrome; recessive nephronophthisis; protein: inverson [Gene] homozygosity mapping, candidate gene; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or Leber congenital amaurosis; a deletion of this gene produces reversal of left-right polarity (situs inversus) and kidney disease in the inv mouse Haider 98; Mochizuki 98; Morgan 98; Otto 03; O'Toole 06
DFNB31, USH2D, WHRN;
607084, 607928, 611383
9q32 recessive Usher syndrome, type 2; recessive deafness without retinitis pigmentosa; protein: whirlin [Gene] linkage mapping, candidate gene; recessive mutations in deaf wi (whirler) mouse and in humans with profound prelingual deafness; rare cause of recessive deafness and RP; gene product is a PDZ scaffold protein expressed in hair cells and photoreceptors; mutations causing retinal disease are in the long protein isoform Ebermann 07; Mburu 03; Mustapha 02
PRPF4;
607795
9q32 dominant retinitis pigmentosa; protein: pre-mRNA processing factor 4 [Gene] targeted-capture next-generation sequencing; a heterozygous PRPF4 missense mutation and a regulatory deletion identified in a dominant RP family and an isolated case, respectively; the PRPF4 protein is a member of the U4/U6-U5 splice complex which includes several other proteins causing dominant RP Chen 14
TLR4, ARMD10;
603030, 603075, 611488
9q33.1 age-related macular degeneration, complex etiology; protein: toll-like receptor 4 [Gene] linkage mapping, association study; linkage mapping indicated an AMD locus at this site and a polymorphic Asp299Gly amino acid substitution in TLR4 showed association with life-time risk of AMD in Caucasians; a subsequent study did not replicate this finding; toll-like receptors recognize microorganisms and then initiate an immune response; TLR4 produces a widely-expressed transmembrane protein which recognizes lipopolysaccharide from Gram-negative bacteria; the Gly allele is protective against atherosclerosis; see also TLR3 Edwards 08; Zareparsi 05a
TRIM32, BBS11, HT2A;
209900, 254110, 602290
9q33.1 recessive Bardet-Biedl syndrome; recessive limb-girdle muscular dystrophy; protein: tripartite motif-containing protein 32 [Gene] homozygosity mapping, candidate gene; small consanguineous Israeli Bedouin family; protein is an E3 ubiquitin ligase; antisense (morpholino) knockdown of gene in zebrafish produces a phenotype similar to other BBS gene knockdowns; missense mutations in TRIM32 are also associated with limb-girdle muscular dystrophy type 2H (LGMD2H) Chiang 06; Fridell 95; Frosk 02
RP8, RP21;
500004
not 9q34-qter dominant retinitis pigmentosa with sensorineural deafness [Gene] linkage mapping; later mapped to MT-TS2 in mitochondrion; 'RP21' withdrawn Kenna 97; Mansergh 99
INPP5E, CORS1, JBTS1;
213300, 610156
9q34.3 recessive Joubert syndrome; recessive MORM syndrome; protein: inositol polyphosphate-5-phosphatase E [Gene] linkage mapping, candidate gene; Joubert syndrome, also known as cerebello-oculo-renal syndrome, involves highly variable cerebellar and cognitive abnormalities, cystic kidney disease (nephronophthisis), and retinitis pigmentosa or Leber congenital amaurosis; MORM is similar to Bardet-Biedl syndrome; the INPP5E gene is widely expressed; the protein stabilizes primary cilia through regulation of phosphatidylinositol in conjunction with phosphotidylinositol kinases Bielas 09; Jacoby 09; Saar 99

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Chromosome 10

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
USH1K  10p11.21-q21.1 recessive Usher syndrome, type 1k linkage mapping; genome-wide linkage mapping in a consanguineous Pakistani family with type 1 Usher syndrome localized the disease locus to chromosome 10 with a two-point lod score of 3.8; the locus overlaps with PCDH15 (USH1F) but sequencing uncovered no mutations; also overlaps with DFNB33 Jaworek 12
ACBD5  10p12.1 recessive cone-rod dystrophy with psychomotor delay; protein: acyl-CoA binding domain containing protein 5 [Gene] homozygosity mapping, whole-exome sequencing; rare, novel homozygous frame-shift mutation in a multiplex Saudi family with CORD and white matter disease; protein binds co-enxyme A with unknown function Abu-Safieh 13
PHYH, PAHX, RDPA;
266500, 600964, 602026
10p13 recessive Refsum disease, adult form; protein: phytanoyl-CoA hydroxylase [Gene] homozygosity mapping, candidate gene; Refsum disease is a peroxisomal disorder of branched-chain lipid metabolism, with progressive RP, peripheral neuropathy, cerebellar ataxia and additional findings; also known as Zellweger syndrome, phytanic acid storage disease and other disorders; see also PEX1, PEX7 and PXMP3 Jansen 97; Jansen 97a; Mihalik 97; Nadal 95
RBP3, IRBP, RP66;
180290, 268000
10q11.22 recessive retinitis pigmentosa; protein: retinol binding protein 3, interstitial [Gene] homozygosity mapping, candidate gene; a homozygous mutation in an inbred family, otherwise a rare cause of recessive RP; RBP3 protein binds and transports retinoids in the interphotoreceptor matrix between the RPE and photoreceptors; transgenic knockout mice have rod and cone structural abnormalities, and produce reduced ERG amplitudes with recovery following 9-cis-retinal treatment den Hollander 09; Liou 98; Parker 09; Valverde 98
ERCC6, ARMD5;
133540, 214150, 278800, 603075, 609413
10q11.23 age-related macular degeneration, complex etiology; Cockayne syndrome, recessive; protein: excision repair cross-complementing rodent repair deficiency complementation group 6 protein [Gene] candidate gene, association study; a flanking SNP in ERCC6 increases life-time risk of AMD only slightly, but in interaction with the CFH Tyr402His polymorphism increases risk substantially; homozygous mutations cause xeroderma pigmentosa or complex developmental disorders; protein is involved in DNA nucleotide excision repair Tuo 06
RNANC;
221900
10q21 recessive nonsyndromal congenital retinal nonattachment [Gene] homozygosity mapping; 1% prevalence in isolated Iranian population Ghiasvand 98; Ghiasvand 00
PCDH15, DFNB23, USH1F;
276900, 601067, 602083, 605514, 609533
10q21.1 recessive Usher syndrome, type 1f; recessive deafness without retinitis pigmentosa; digenic Usher syndrome with CDH23; protein: protocadherin 15 [Gene] homozygosity mapping, candidate gene; mapping in an inbred Hutterite family, mutations in Pakistani families; distinct from USH1D; same as mouse waltzer (av) with balance and hearing loss only; protein localizes to stereocilia in inner-ear hair cells and to photoreceptors; digenic Usher syndrome with CDH23 suggested by a heterozygous knockout mouse Ahmed 01; Ahmed 03; Alagramam 01; Alagramam 01a; Wayne 97; Zheng 04
CDH23, DFNB12, USH1D;
276900, 601386, 601067, 605516
10q22.1 recessive Usher syndrome, type 1d; recessive deafness without retinitis pigmentosa; digenic Usher syndrome with PCDH15; protein: cadherin-like gene 23 [Gene] homozygosity mapping, candidate gene; CDH23 is expressed in retina and cochlea; cadherins are intercellular adhesion proteins; same as v waltzer deafness mouse; consanguineous Cuban, Indian, Pakistani and Turkish families; may cause 56% of Usher syndrome and 5% of recessive nonsyndromic deafness; digenic Usher syndrome with PCDH15 suggested by a heterozygous knockout mouse Astuto 02; Bolz 01; Bork 01; Di Palma 01; Wayne 96; Zheng 04
CDHR1, CORD15, PCDH21, RP65;
120970, 268000, 609502, 613660
10q23.1 recessive cone-rod dystrophy; protein: cadherin-related family member 1 (protocadherin 21) [Gene] homozygosity mapping, candidate gene; distinct homozygous 1 bp deletions in two consanguineous Middle Eastern families; disease-causing variants were not detected in CDHR1 in an independent survey of patients with recessive retinopathies; CDHR1 protein is a member of the cadherin superfamily of calcium-dependent cell-cell adhesion factors, largely photoreceptor specific, involved in disc development; additional consanguineous Faroe Island family Bolz 05; Henderson 10; Ostergaard 10
RGR, RP44;
268000, 600342, 613769
10q23.1 recessive retinitis pigmentosa; dominant choroidal sclerosis; protein: RPE-retinal G protein-coupled receptor [Gene] candidate gene; protein is rhodopsin homolog found in RPE and Müller cells exclusively but, in inverse of rhodopsin, binds all-trans retinal which light converts to 11-cis retinal Chen 96; Morimura 99a
KIF11, EG5, HK5P, KNSL1, MCLMR, TRIP5;
148760, 152950
10q23.33 dominant microcephaly, lymphedema and chorioretinopathy; protein: kinesin family member 11 [Gene] whole-exome sequencing; multiple affected families, some with chorioretinopathy, some without; the KIF11 protein (also called EG5) forms a homotetramer kinesin motor involved in mitotic spindle assembly and function Ostergaard 12
PDE6C, COD4, PDEA2;
600827, 613093
10q23.33 recessive cone dystrophy, early onset; recessive complete and incomplete achromatopsia; protein: cGMP-specific cone phosphodiesterase 6C alpha prime protein [Gene] homozygosity mapping, candidate gene; homozygous mutations in four families, two with cone dystrophy and two with achromatopsia (absent cones and/or color vision); several additional heterozygous mutations in other patients; PDE6C protein is a component of cone cGMP phosphodiesterase which plays a central role in cone phototransduction Thiadens 09
RBP4;
180250
10q23.33 recessive RPE degeneration; protein: retinol-binding protein 4 [Gene] candidate gene; RPE atrophy with night blindness and reduced visual acuity; carrier protein for serum retinol Seeliger 99
PAX2, ONCR;
120330, 167409
10q24.31 dominant renal-coloboma syndrome; protein: paired homeotic gene 2 protein [Gene] candidate gene; optic nerve colobomas with renal abnormalities; similar malformations in Pax2(1Neu) mouse mutation Favor 96; Sanyanusin 95; Sanyanusin 95a
PDZD7, PDZK7;
612971
10q24.31 recessive non-syndromic deafness; protein: PDZ domain 7 containing protein [Gene] chromosomal translocation; homozygous chromosomal translocation breakpoint in the PDZK7 gene in an 8 year old child with hearing loss but no retinal disease; included as a likely Usher syndrome gene (not in Summaries); gene interacts with DFNB31 and USH1C proteins; may modify other Usher mutations Schneider 09
BBIP1, BBIP10, BBS18;
613605
10q25.2 recessive Bardet-Biedl syndrome; protein: BBSome interacting protein 1 [Gene] whole-exome sequencing; homozygous stop mutation in an isolated BBS case, no other BBS gene mutations detected; protein is a member of the BBSome complex Scheidecker 13
CORD17  10q26 dominant cone-rod dystrophy linkage mapping; linkage mapping in a Romani Gypsy family with a maximum LOD score of 3.3 Kamenarova 12
ARMS2, ARMD8, LOC387715;
603075, 611313
10q26.13 age-related macular degeneration, complex etiology; protein: hypothetical protein with Entrez ID 387715 [Gene] association study, candidate gene; a SNP (rs10490924), within LOC387715 in a region on 10q linked to AMD, has the second highest association with AMD of neighboring SNPs, but whether LOC387715 is a functioning gene is disputed; the SNP encodes a possible serine risk allele (Ala69Ser); an LOC387715 transcript is found in many tissues including retina; the predicted gene product is a hypothetical protein of unknown function; the LOC387715-HTRA1 associated SNPs are 6 kb apart Jakobsdottir 05; Rivera 05
HTRA1, ARMD7, PRSS11;
602194, 603075, 610149
10q26.13 age-related macular degeneration, complex etiology; protein: HtrA serine peptidase 1 [Gene] association study, candidate gene; a SNP (rs11200638), which is 512 bp 5' of HTRA1 in a region on10q linked to AMD, has the highest association with AMD of neighboring SNPS; the risk allele may enhance expression; the HTRA protein is a serine protease that degrades insulin-like growth factors; the protein is present in AMD drusen and may regulate degradation of extracellular matrix; the HTRA1-LOC387715 associated SNPs are 6 kb apart Canfield 07; DeWan 06; Hu 98; Yang 06
OAT;
258870
10q26.13 recessive gyrate atrophy; protein: ornithine aminotransferase [Gene] candidate gene; many mutations reported Valle 00

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Chromosome 11

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
TUB;
601197
11p15.4 recessive retinal dystrophy and obesity; protein: tubby bipartite transcription factor [Gene] homozygosity mapping, whole-exome sequencing; a homozygous frame-shift mutation identified in a consanguineous child with obesity, night blindness and rod cone dystrophy; a recessive mutation in the homologous gene causes similar findings in the "tubby" (tub) mouse; the TUB gene shares homology with the TULP1 gene causing recessive RP and LCA Dev Borman 13
TEAD1, AA, TCF13, TEF1;
108985, 189967
11p15.3 dominant atrophia areata; protein: TEA domain family member 1 [Gene] linkage mapping, candidate gene; also known as Sveinsson peripapillary chorioretinal degeneration, helicoid, with symmetrical lesions radiating from the optic disc; large Icelandic family; protein enhances transcription in the retina and other tissues Fossdal 95; Fossdal 04
USH1C, DFNB18;
276900, 276904, 602092, 605242
11p15.1 recessive Usher syndrome, Acadian; recessive deafness without retinitis pigmentosa; protein: harmonin [Gene] linkage mapping, candidate gene; harmonin is a PDZ-containing protein expressed in inner ear sensory hair cells; contiguous gene syndrome includes deafness, hyperinsulinism and enteropathy; possibly same gene affected in rd5 mouse; nonsyndromic deafness may involve alternately spliced isoforms unique to inner ear; common c.216G>A founder mutation in French Canadians and Acadians as is another in USH2A Ahmed 02; Ayyagari 95; Bitner-Glindzicz 00; Ebermann 07a; Heckenlively 95; Keats 94; Noun 93; Nouri 94; Ouyang 02; Smith 92; Verpy 00
EVR3;
133780, 605750
11p13-p12 dominant familial exudative vitreoretinopathy [Gene] linkage mapping; large Scottish family Downey 01
CORS2, JBTS2;
608091
11p12-q13.3 recessive Joubert syndrome [Gene] linkage mapping; Joubert syndrome, also known as cerebello-oculo-renal syndrome, involves highly variable cerebellar and cognitive abnormalities, cystic kidney disease (nephronophthisis), and retinitis pigmentosa or Leber congenital amaurosis Keeler 03; Valente 03; Valente 05
ROM1;
180721
11q12.3 dominant retinitis pigmentosa; digenic retinitis pigmentosa with PRPH2; protein: retinal outer segment membrane protein 1 [Gene] candidate gene; rare dominant mutations; in addition, heterozygote ROM1 and PRPH2 (RDS) mutations cause digenic disease; USH1H is a digenic form of Usher syndrome Bascom 92; Bascom 92a; Bascom 93; Bascom 93a; Bascom 95; Dryja 97; Kajiwara 94; Martínez-Mir 97a; Nichols 94; Sakuma 95
BEST1, RP50, TU15B, VMD2;
153700, 268000, 607854, 613194
11q12.3 dominant macular dystrophy, Best type; dominant vitreoretinochoroidopathy; recessive bestrophinopathy; recessive retinitis pigmentosa; dominant retinitis pigmentosa; protein: bestrophin 1 [Gene] linkage mapping, candidate gene; retina-specific expression; protein localizes to the basolateral plasma membrane of the RPE and functions as a transmembrane oligmeric chloride channel; lipofuscin accumulation may be secondary to abnormal ion flux; 1 to 2% of AMD cases may have late-onset BEST mutations; dominant vitreoretinochoroidopathy includes ocular developmental abnormalities whereas biallelic (compound heterozygote) mutations cause a characteristic retinal disorder, "bestrophinopathy"; same as cmr dog model; clinical consequences of bestrophin mutations are highly variable! Burgess 08; Davidson 09; Forsman 92; Graff 94; Guziewicz 07; Lotery 00a; Marmorstein 00; Marquardt 98; Nichols 94; Petrukhin 98; Stone 92a; Sun 02; Wadeilus 93; Weber 93; Weber 94a; Weber 94c; Yardley 04; Zhaung 93
BBS1;
209900, 209901
11q13 recessive Bardet-Biedl syndrome; protein: BBS1 protein [Gene] linkage mapping, candidate gene; approximately 40% of BBS families; ubiquitously-expressed gene of unknown function but weak similarity to BBS2; common Met390Arg mutation; evidence does not support triallelic inheritance with BBS2, BBS4 or MKKS Beales 97; Bruford 97; Cornier 95; Katsanis 99; Katsanis 01; Leppert 94; Mykytyn 02; Woods 99; Young 99a
CABP4, CSNB2B;
310500, 608965, 610427
11q13.1 recessive congenital stationary night blindness; recessive congenital cone-rod synaptic disease; recessive Leber congenital amaurosis; protein: calcium binding protein 4 [Gene] animal model, candidate gene, homozygosity mapping; recessive CSNB mutations in two families and LCA in a third consanguineous Bedouin family; expression of CABP4 is limited to retina; protein localizes to photoreceptor synaptic terminals and may modulate voltage-dependent calcium channels; Cabp4-null mice have a phenotype similar to CSNB; mutations in patients reduce transcript levels to 30 to 40% of normal; the CSNB diagnosis is disputed Aldahmesh 10; Haeseleer 04; Khan 13; Littink 09; Zeitz 06
LRP5, EVR4, HBM, OPPG;
133780, 259770, 601813, 601884, 603506
11q13.2 dominant familial exudative vitreoretinopathy; dominant high bone mass trait; recessive osteoporosis-pseudoglioma syndrome; recessive familial exudative vitreoretinopathy; protein: low density lipoprotein receptor-related protein 5 [Gene] linkage mapping, candidate gene; Asian consanguineous family and others; dominant high bone mass subjects have no ocular findings, dominant FEVR patients have low bone mass, recessive osteoporosis patients have severe ocular developmental disorders; LRP5, FZD4, NDP and TSPAN12 proteins are components of Wnt signaling pathways involved in cell adhesion and migration including retinal angiogenesis Jiao 04; Price 96; Toomes 04; Toomes 04a
CAPN5, ADNIV, HTRA3, VRNI;
602537, 193235
11q13.5 dominant neovascular inflammatory vitreoretinopathy; protein: calpain 5 [Gene] linkage mapping, candidate gene; mutations found in three families; dominant neoovascular inflammatory vitreoretinopathy is an autoimmune disorder with progressive symptoms similar to uveitis, RP and diabetic retinopathy; disease locus (VRNI) was originally mapped in 1992; calpains are calcium-dependent cysteine proteases involved in signal transduction; CAPN5 is expressed in photoreceptors Mahajan 12; Stone 92
MYO7A, DFNB2, USH1B;
276900, 276903, 600060
11q13.5 recessive Usher syndrome, type 1b; recessive congenital deafness without retinitis pigmentosa; recessive atypical Usher syndrome (USH3-like); protein: myosin VIIA [Gene] linkage mapping, candidate gene; MY07A is an unconventional myosin, a component of cilia and microvilli, found in several tissues including inner ear hair cells, photoreceptors and RPE; same gene affected in sh1 shaker-1 mouse (but no RP) and mariner zebrafish; possible digenic deafness with USH3A; MYO7A functions as an actin-based motor protein involved in opsin transport in photoreceptors, RPE phagocytosis, and transport and localization of melanosomes in RPE cells Adato 97; Adato 99; Bonné-Tamir 94; El-Amraoui 96; Ernest 00; Gibbs 03; Gibbs 04; Gibson 95; Kelley 97; Kimberling 92; Lévy 97; Liu 97; Liu 97a; Liu 97b; Liu 98; Liu 99a; Smith 92; Weil 95; Weil 97; Weston 95; Weston 96; Wolfrum 98
TMEM126A, OPA7;
165500, 612988, 612989
11q14.1 recessive non-syndromic optic atrophy; protein: transmembrane protein 126A [Gene] homozygosity mapping, sequencing; Arg55ter mutation in a large inbred Algerian family and other families from the region; transmembrane mitochondrial protein of unknown function, consistent with role of mitochondria in optic neuropathy Hanein 09; Meyer 10
FZD4, EVR1, FEVR;
133780, 604579
11q14.2 dominant familial exudative vitreoretinopathy; protein: frizzled-4 Wnt receptor homolog [Gene] linkage mapping, candidate gene; Criswick-Schepens syndrome; distinct from VRNI; protein is a 7 transmembrane-spanning member of the Wnt (Drosophila wingless) pathway; FZD4, LRP5, NDP and TSPAN12 proteins are components of Wnt signaling pathways involved in cell adhesion and migration including retinal angiogenesis Li 92; Li 92a; Müller 94; Robitaille 02
C1QTNF5, CTRP5;
605670, 608752
11q23.3 dominant macular dystrophy, late onset; dominant macular dystrophy with lens zonules; protein: C1q and tumor necrosis-related protein 5 collagen [Gene] linkage mapping, candidate gene; common mutation (Ser163Arg) found in 7 of 14 families with late-onset retinal degeneration (L-ORD), a possible model for AMD; C1QTNF5 protein is a small collagen secreted by RPE, a possible constituent of Bruch's membrane; another missense mutation associated with complex ocular phenotype including lens zonules Ayyagari 05; Hayward 03
CEP164, NPHP15;
256100, 614845, 614848
11q23.3 recessive nephronophthisis with retinal degeneration; protein: 164kDa centrosomal protein [Gene] whole-exome sequencing; four families with homozygous mutations; clinical findings include cystic kidney disease (nephronophthisis), cerebellar and cognitive abnormalities, and retinal dystrophy; one of a large class of ciliary and centrosomal ciliopathies affecting kidney, brain and retinal cells; CEP164 protein is involved in DNA damage response Chaki 12
MFRP, NNO2;
606227, 609549
11q23.3 recessive microphthalmos and retinal disease syndrome; recessive nanophthalmos; protein: membrane-type frizzled-related protein [Gene] animal model, candidate gene; syndrome includes posterior microphtalmos, RP, foveoschisis, and optic disc drusen; nanophthalmos involves abnormal growth of the eye resulting in extreme hyperopia without retinal disease; the rd6 mouse has an Mfrp mutation; frizzled-related proteins play complex roles in cell development and maintenance Ayala-Ramirez 06; Kameya 02; Sundin 05

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Chromosome 12

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
CACNA2D4, RCD4;
608171, 610478
12p13.33 recessive cone dystrophy; protein: calcium channel, voltage-dependent, alpha 2/delta subunit 4 [Gene] animal model, candidate gene; one affected homozygous sibship; protein is a subunit of a voltage-gated L-type calcium channel complex in photoreceptor ribbon synapses; first identified in a spontaneous, homozygous mouse model with retinopathy similar to CSNB; gene is widely expressed Qin 02; Wycisk 06; Wycisk 06a
PDE6H, RCD3A;
610024, 601190
12p12.3 recessive achromatopsia, incomplete; protein: phosphodiesterase 6H,cGMP-specific, cone, gamma [Gene] candidate gene; a homozygous Ser12X mutation in PDE6H from a common ancestor was found in Dutch and Belgium families; an earlier report of a heterozygous mutation in patients with cone dystrophy was not supported by subsequent studies; PDE6H protein is expressed in all cone photoreceptors although patients have preserved short-wavelength cone function Kohl 12; Piri 05
COL2A1, AOM, STL1;
108300, 120140, 132450, 156550, 183900, 184250, 200610, 609508
12q13.11 dominant Stickler syndrome, type I; dominant Wagner syndrome; dominant epiphyseal dysplasia; protein: collagen, type II, alpha 1 [Gene] linkage mapping, candidate gene; Stickler syndrome involves variable symptoms including facial-skeletal abnormalities, sensorineural hearing loss, and multiple ocular disorders such as glaucoma, myopia and retinal detachment; symptoms differ substantially between individuals and may be limited to retinal or vitreoretinal findings alone, such as rhegmatogenous retinal detachment; see also COL9A1 and COL11A1 Francomano 87; Go 03; Lee 89; Snead 99
CODA1;
611543
12q13.13-q14.3 dominant cavitary optic disc anomalies linkage mapping; a maximum LOD score of 4.1 in one US family of Russian origin; affected individuals have optic nerve head anomalies including optic pits, coloboma and "morning glory" anomaly, with serous macular detachments and macular disease, but normal intraocular pressures Fingert 07; Honkanen 07
RDH5, RDH1;
136880, 601617
12q13.2 recessive fundus albipunctatus; recessive cone dystrophy, late onset; protein: 11-cis retinol dehydrogenase 5 [Gene] candidate gene; stationary night blindness with subretinal spots and delayed dark adaptation; protein is an RPE microsomal enzyme involved in converting 11-cis retinol to 11-cis retinal; extremely delayed rod and cone resensitization in null mutation; same pathway as RDH12 Cideciyan 00; Nakamura 00; Simon 96; Yamamoto 99
BBS10, FLJ23560;
209900, 610148
12q21.2 recessive Bardet-Biedl syndrome; protein: BBS10 (C12orf58) chaperonin [Gene] linkage mapping, candidate gene; large, consanguineous Lebanese family; protein is a putative group II chaperonin; antisense (morpholino) knockdown of gene in zebrafish affects gastrulation movements which is consistent with hypothesis that BBS proteins are involved in planer cell polarity Stoetzel 06; White 07
CEP290, BBS14, JBTS5, LCA10, NPHP6, MKS4, SLSN6;
204000, 610142, 610188, 610189, 611134, 611755
12q21.32 recessive Senior-Loken syndrome; recessive Joubert syndrome; recessive Leber congenital amaurosis; recessive Meckel syndrome; protein: centrosomal protein 290 kDa [Gene] homozygosity and linkage mapping, candidate gene; CEP290 mutations cause at least 20% of LCA, with a single predominant mutation, c.2991+1655A->G; Senior-Loken syndrome involves cystic kidney disease (nephronophthisis) and retinitis pigmentosa or LCA; Jobert syndrome is the same with additional cerebellar and cognitive abnormalities; homozygous CEP290 mutations in the rd16 mouse and rdAc Abyssian cat; CEP290 protein associates with microtubule proteins in centrosomes and cilia, including the rod connecting cilium; additional symptoms include anosmia (abnormal sense of smell) Baala 07; Chang 06; den Hollander 06; Frank 07; Leitch 08; McEwen 07; Menotti-Raymond 07; Sayer 06; Valente 06
MVK;
251170, 260920, 610377, 175900
12q24.11 recessive retinitis pigmentosa; recessive mevalonic aciduria; recessive hyper-IgD syndrome; protein: mevalonate kinase [Gene] whole-exome sequencing; compound heterozygote and homozygous Dutch patients; recessive MVK mutations often cause complex inborn errors of metabolism resulting in mevalonic aciduria, hyper-IgD syndrome and, possibly, porokeratosis, a skin disease; the Dutch RP patients have mild mevalonic aciduria but no other patent extra-ocular symptoms Siemiatkowska 13
C12orf65, COXPD7, SPG55;
613541, 613559, 615035
12q24.31 recessive spastic paraplegia, neuropathy and optic atrophy; protein: chromosome 12 open reading frame 65 [Gene] linkage mapping, whole-exome sequencing; recessive C12orf65 mutations identified in several consanguineous families with variable, early onset, spastic paraplegia, neuropathy and optic atrophy (SPG55) and/or combined oxidative phosphorylation deficiency (COXPD7); the C12orf65 protein is a nuclear-encoded mitochondrial matrix protein involved in mitochondrial protein synthesis Shimazaki 12; Tucci 13

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Chromosome 13

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
ITM2B, ABRI;
117300, 176500, 603904
13q14.2 dominant retinal dystrophy; dominant dementia, familial; protein: integral membrane protein 2B [Gene] whole-exome sequencing; a missense mutation identified segregating in a large family with inner retinal dysfunction and ganglion cell abnormalities but normal cerebral functioning; protein elongation mutations found in families with dominant dementia and cerebral amyloid angiopathy; protein of unknown function which localizes to retinal inner nuclear and ganglion cell layers Audo 13
RB1;
180200
13q14.2 dominant germline or somatic retinoblastoma; benign retinoma; pinealoma; osteogenic sarcoma; protein: retinoblastoma protein 1 [Gene] deletion mapping, candidate gene; requires 'second hit' loss of heterozygosity; 5 to 10% inherited, 20 to 30% new mutation, remainder sporadic; preferential loss of maternal chromosome; protein is cell-cycle regulatory element Dryja 89; Francke 76; Friend 86; Knudson 71; Lee 87; Lohmann 96; Mancini 94; Sparkes 83; Toguchida 93
GRK1, RHOK, RK;
180381, 258100
13q34 recessive congenital stationary night blindness, Oguchi type; protein: rhodopsin kinase [Gene] candidate gene; several mutations in Japanese; see also SAG Cideciyan 98; Khani 98; Maw 98; Yamamoto 97
STGD2;
153900
not 13q34 dominant macular dystrophy, Stargardt type linkage mapping, candidate gene; large American family, later remapped to ELOVL4 on 6q11 Zhang 94; Zhang 01

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Chromosome 14

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
ACHM1, RMCH;
216900
not 14 recessive rod monochromacy or achromatopsia [Gene] uniparental isodisomy; total color blindness or 'day blindness'; mutations later identified in CNGB3 Pentao 92
RP16  not 14 recessive retinitis pigmentosa linkage mapping; withdrawn by senior author; 'RP16' withdrawn Bruford 94
MCDR4  14q11.2 dominant macular dystrophy, North Carolina-like with progressive sensorineural hearing loss [Gene] linkage mapping; English family Francis 03
NRL, RP27;
162080, 613750
14q11.2 dominant retinitis pigmentosa; recessive retinitis pigmentosa; protein: neural retina lucine zipper [Gene] linkage mapping, candidate gene; NRL is a retinal transcription factor which interacts with CRX, promotes transcription of rhodopsin and other retinal genes, and is required for rod photoreceptor development; recessive disease includes clumped pigmentary degeneration and preserved blue cone function Bessant 99; Farjo 97; Mears 01; Nishiguchi 04a; Rehemtulla 96; Swaroop 92; Yang-Feng 92
RPGRIP1, CORD13, LCA6;
120970, 204000, 605446, 608194, 613826
14q11.2 recessive Leber congenital amaurosis; recessive cone-rod dystrophy; protein: RP GTPase regulator-interacting protein 1 [Gene] candidate gene; mutations in 4 to 6% of patients; RPGRIP1 protein interacts with RPGR, with species-specific colocalization (rod and cone outer segments in humans, connecting cilia in mice); high sequence similarity to RPGRIP1L; suggestion of same gene in the cord1 longhaired dachshund dog but later discounted Boylan 00; Dryja 01; Hameed 03; Hanein 04; Hong 01; Kuznetsova 12; Mavlyutov 02; Mellersh 06; Roepman 00
OTX2;
600037, 610125
14q22.3 dominant Leber congenital amaurosis and pituitary dysfunction; recessive microphthalmia; protein: orthodenticle homeobox 2 protein [Gene] candidate gene; de novo mutation in a boy with early onset retinal dystrophy and pituitary dysfunction including failure to thrive, poor feeding and growth hormone deficiency; recessive mutations in OTX2 cause microphthalmia and cerebral abnormalities; OTX2 protein is a member of the bicoid family of homeodomain transcription factors expressed in brain and involved in retinal and ocular development Henderson 09
RDH12, LCA13, RP53;
204000, 268000, 608830, 612712
14q24.1 recessive Leber congenital amaurosis with severe childhood retinal dystrophy; dominant retinitis pigmentosa; protein: retinol dehydrogenase 12 [Gene] homozygosity mapping, candidate gene, linkage mapping; French families and consanguineous Austrian families; symptoms include severe progressive rod-cone dystrophy and macular atrophy; may account for 4% of recessive LCA; protein is involved in visual cycle and has unusual dual specificity for all-trans-retinols and cis-retinols; same pathway as RDH5; large North Carolina family with dominant mutation Fingert 08; Haeseleer 02; Janecke 04; Perrault 04
SPATA7, HSD3, LCA3;
204000, 268000, 604232, 609868
14q31.3 recessive Leber congenital amaurosis; recessive RP, juvenile; protein: spermatogenesis associated protein 7 [Gene] homozygosity mapping, sequencing; Saudi Arabian, Dutch and other families including original LCA3 family; the SPATA7 protein is found in spermatocytes and multiple retinal layers; not a ciliary protein Stockton 98; Wang 09; Zhang 03
USH1A, USH1;
276900
not 14q32 recessive Usher syndrome, French [Gene] linkage mapping; original mapping in French families was questioned later; at least seven of ten USH type I families from the region have mutations in MY07A Gerber 06; Kaplan 91; Larget-Piet 94
TTC8, BBS8, RP51;
209900, 268000, 608132, 613464
14q32.11 recessive Bardet-Biedl syndrome; recessive retinitis pigmentosa; protein: tetratricopeptide repeat domain 8 [Gene] candidate gene; TTC8 protein includes a prokaryotic domain, pilF, involved in pilus formation, localizes to ciliated structures such as the connecting cilium in photoreceptors, and interacts with PCM1, a protein involved in ciliogenesis; thus BBS proteins play a role in basal body - ciliary function; multiple BBS8 families, one with random left-right body axis symmetry; non-syndromic recessive RP in a consanguineous Pakistani family Ansley 03; Riazuddin 10
FBLN5, ARMD3;
603075, 604580, 608895
14q32.12 familial macular dystrophy, age-related; protein: fibulin 5 [Gene] candidate gene; missense changes found in 1.7% of AMD patients, presumed to be dominant acting; fibulins are extracellular matrix proteins with multiple EGF domains, others include EFEMP1 and FBLN6 Stone 04

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Chromosome 15

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
TRPM1, CSNB1C, MLSN1;
310500, 603576, 613216
15q13.3 recessive congenital stationary night blindness, complete; protein: transient receptor potential cation channel, subfamily M, member 1 (melastatin) [Gene] animal model, candidate gene; TRPM1 was originally identified as the cause of recessive CSNB and coat color abnormalities in Appaloosa horses; frequent cause of CSNB in isolated, consanguineous and multiplex cases; affected individuals have myopia and reduced central vision but normal skin pigmentation; TRPM1 protein mediates transient Ca+ flux in retinal ON bipolar cells initiating the signaling cascade resulting in the light-evoked response of the inner retina Audo 09; Bellone 08; Li 09a; van Genderen 09
USH1H;
276900, 612632
15q22-q23 recessive Usher syndrome, type 1 [Gene] linkage; linkage mapping in two Pakistani families with a maximum two-point LOD score of 5.7, and linkage in a Dutch family with Usher syndrome and congenital cataract Ahmed 09; Dad 10
SLC24A1, CSNB1D, NCKX, RODX;
310500, 603617, 613830
15q22.31 recessive congenital stationary night blindness; protein: solute carrier family 24 (sodium/potassium/calcium exchanger) member 1 [Gene] linkage mapping, candidate gene; homozygous mutations in a large multi-generation Pakistani family; the SLC24A1 gene is expressed in multiple retinal tissues by postnatal day 7 in mice; the gene product is a member of the solute carrier protein family and may affect intracellular calcium levels in retina; an earlier survey failed to find mutations in patients with retinitis pigmentosa Riazuddin 10a; Sharon 02
NR2E3, ESCS, PNR, RP37;
268000, 268100, 604485, 611131
15q23 recessive enhanced S-cone syndrome (ESC); recessive retinitis pigmentosa in Portuguese Crypto Jews; Goldmann-Favre syndrome; dominant retinitis pigmentosa; combined dominant and recessive retinopathy; protein: nuclear receptor subfamily 2 group E3 [Gene] candidate gene; symptoms include increased blue sensitivity, night blindness and retinal degeneration consistent with increased density/sensitivity of blue (S wavelength) cones, a novel gain-of-function disorder; may include clumped pigmentary retinal findings; protein is a ligand-dependent transcription factor; same gene affected in rd7 mouse; recurrent Gly56Arg mutation causes dominant RP; a recessive mutation in trans to the Gly56Arg mutation causes ESC Coppieters 07; Escher 09; Gerber 00; Gire 07; Haider 00; Haider 01; Kobayashi 99; Kaplan 99; Sharon 03
MRST;
602685
15q24 recessive retardation, spasticity and retinal degeneration [Gene] linkage mapping; inbred Pakistani family Mitchell 98
BBS4;
209900, 600374
15q24.1 recessive Bardet-Biedl syndrome; protein: BBS4 protein [Gene] homozygosity and linkage mapping, candidate gene; approximately 3 to 6% of BBS families; protein similar to O-linked N-acetylglucosamine transferases involved in signal transduction in plants and animals; involved in triallelic inheritance: two BBS2 alleles and a third BBS1, BBS4 or MKKS allele Beales 97; Bruford 97; Carmi 95; Katsanis 01; Katsanis 02; Mykytyn 01
CIB2, DFNB48, KIP2, USH1J;
605564, 609439, 614869
15q25.1 recessive Usher syndrome, type 1J; protein: calcium and integrin binding family member 2 [Gene] linkage mapping, candidate gene; a homozygous CIB2 mutation was found in a Pakistani family with Usher syndrome, originally called USH1H, but subsequently shown to be outside this region and hence called "USH1J"; other CIB2 mutations found in several Pakistani families with nonsyndromic deafness; CIB2 protein localizes to stereocilia of inner ear hair cells, photoreceptors and RPE; protein is a component of the Usher interactome Riazuddin 12
RLBP1, CRALBP;
180090
15q26.1 recessive retinitis pigmentosa; recessive Bothnia dystrophy; recessive retinitis punctata albescens; recessive Newfoundland rod-cone dystrophy; protein: retinaldehyde-binding protein 1 [Gene] candidate gene; consanguineous Indian family, Swedish families, Newfoundland isolate and others Burstedt 99; Eichers 02; Maw 97; Morimura 99

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Chromosome 16

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
ARL2BP, BART, BART1  16p13.3 recessive retinitis pigmentosa; protein: ADP-ribosylation factor-like 2 binding protein [Gene] homozygosity mapping, whole-exome sequencing; unrelated homozygous mutations detected in two consanguineous families, Arab-Muslim and European, respectively; affected individuals have RP and variable additional findings consistent with cilia-associated diseases; the ARL2BP protein is widely-expressed, localizes to photoreceptor connecting cilia and may play a role in trafficking of ciliary proteins and factors Davidson 13
GNPTG;
252605, 607838
16p13.3 recessive retinitis pigmentosa and skeletal abnormalities; recessive mucolipidosis III gamma; protein: N-acetylglucosamine-1-phosphate transferase gamma subunit [Gene] whole-exome sequencing; exome sequencing identified a homozygous deletion in a consanguineous Canadian family with RP and spondyloepiphyseal dysplasia; other mutations in GNPTG cause mucolipidosis with skeletal and joint abnormalities but no reported retinal findings; GNPTG protein is involved in post-translational modification and trafficking of lysosomal hydrolyses Schrader 11
IFT140, MZSDS, WDTC2;
266920, 614620
16p13.3 recessive Mainzer-Saldino syndrome; protein: intraflagellar transport 140 Chlamydomonas homolog protein [Gene] whole-exome sequencing, targeted ciliome resequencing; symptoms of Mainzer-Saldino syndrome are highly variable but usually include skeletal abnormalities, chronic renal disease, retinal dystrophy and cerebellar ataxia, consistent with defects in primary cilia in bone, kidney, brain and retina; diseases with overlapping symptoms include asphyxiating thoracic dystrophy, and Jeune and Sensenbrenner syndromes; IFT140 codes for a subunit of intraflagellar transport complex A, involved in activity of primary cilia including photoreceptor cilia Perrault 12a; Schmidts 13
ABCC6, ARA, MRP6, PXE;
177850, 264800, 603234
16p13.11 recessive pseudoxanthoma elasticum; dominant pseudoxanthoma elasticum; protein: ATP-binding casette, subfamily C, member 6 [Gene] linkage mapping, candidate gene; symptoms include progressive abnormalities in skin, retinal Bruch membrane and arteries leading to hemorrhage, calcification and vascular changes, with retinal angioid streaks; may be an extracellular transport protein; ABCC6 mutations in 60 to 80% of patients Bergen 00; Le Saux 00; Le Saux 01; Ringpfeil 00; Struk 97; van Soest 97
RP22;
602594
16p12.3-p12.1 recessive retinitis pigmentosa [Gene] homozygosity mapping; Indian families Finckh 98
CLN3, JNCL;
607042, 204200
16p11.2 recessive Batten disease (ceroid-lipofuscinosis, neuronal 3), juvenile; protein: Batten disease protein [Gene] linkage mapping, candidate gene; symptoms include early-onset retinal pigmentary degeneration with later mental deterioration; protein is integral to Golgi membranes Batten Disease 95; Eiberg 89; Gardiner 90; Kremmidiotis 99; Mitchison 95; Mitchison 95a; Mitchison 97; Munroe 97
ZNF423, NPHP14, JBTS19;
213300, 256100, 604557, 614844
16q12.1 recessive Jobert syndrome; recessive nephronophthisis; protein: zinc finger protein 423 [Gene] whole-exome sequencing; three families with homozygous mutations causing Joubert syndrome or nephronophthisis; clinical findings include cystic kidney disease (nephronophthisis), cerebellar and cognitive abnormalities, and severe retinal dystrophy; one of a large class of ciliary and centrosomal ciliopathies affecting kidney, brain and retinal cells; ZNF423 protein is involved in DNA damage response Chaki 12
BBS2;
209900, 606151
16q12.2 recessive Bardet-Biedl syndrome; protein: BBS2 protein [Gene] linkage mapping, candidate gene; large Bedouin family and approximately 20% of BBS families; protein of unknown function with sequence similarity to BBS7; may require triallelic inheritance: two BBS2 alleles and a third BBS1, BBS4 or MKKS allele Beales 97; Beales 01; Bruford 97; Katsanis 01; Kwitek-Black 93; Nishimura 01; Woods 99
RPGRIP1L, JBTS7, KIAA1005, MKS5, NPHP8;
610937, 611560, 611561
16q12.2 recessive Joubert syndrome; recesssive Meckel syndrome; protein: RP GTPase regulator-interacting 1 like protein [Gene] homozygosity mapping, candidate gene; several families with Joubert syndrome; clinical findings include cystic kidney disease (nephronophthisis), cerebellar and cognitive abnormalities, and rare retinal dystrophy; one of a growing class of ciliopathy-associated genes affecting photoreceptors; RPGRIP1L has high sequence similarity to RPGRIP1; the protein interacts with NPHP4 protein and other ciliary proteins and is a modifier of other retinal ciliopathies Arts 07; Delous 07; Khanna 09
CNGB1, CNCG2, CNCG3L, GAR1, GARP, RP45;
268000, 600724, 613767
16q13 recessive retinitis pigmentosa; protein: rod cGMP-gated channel beta subunit [Gene] homozygosity mapping, candidate gene; consanguineous French family; CNGB1 encodes a complex transcription unit with at least 6 non-overlapping transcripts, one of which is the disease gene in this case Ardell 00; Bareil 01
OPA8;
165500
16q21-q22.3 dominant optic atrophy, Kjer type linkage mapping; mapped in a large Italian family with a maximum lod score of 8.8; optic atrophy in the family is frequently associated with late-onset sensorineural hearing loss, increased central conductance times and cardiac abnormalities accompanied by increased mitochondrial biogenesis Carelli 11
CDH3, CDHP, PCAD;
114021, 601553
16q22.1 recessive macular dystrophy, juvenile with hypotrichosis; protein: cadherin 3, type 1, placental [Gene] homozygosity mapping, candidate gene; mutations found in two extended, unrelated, consanguineous Arab Israeli (Druze) families; involves early hair loss followed by progressive macular degeneration culminating in blindness; cadherins are calcium-dependent cell-cell adhesion factors Indelman 02; Sprecher 01
ADAMTS18, KNO2;
607512, 608454
16q23.1 recessive Knobloch syndrome; recessive retinal dystrophy, early onset; protein: ADAM metallopeptidase with thrombospondin type 1 motif 18 [Gene] homozygosity mapping, whole-exome sequencing; Knobloch syndrome is a developmental disorder of the eye and occipital region of the skull, with symptoms including myopia, cataract, dislocated lens, vitreoretinal degeneration and retinal detachment; a homozygous missense mutation was identified in ADAMTS18 in an Italian patient with early-onset retinal dystrophy and autism disorder but no additional eye findings; the protein is expressed in adult photoreceptors and knockdown in medaka fish produces a phenotype similar to the human disease Aldahmesh 11a; Peluso 13
FHASD;
609218
16q23.2-q24.2 recessive foveal hypoplasia and anterior segment dysgenesis [Gene] linkage mapping; consanguineous Pakistani family; symptoms include nystagmus and poor vision but no non-ocular findings Pal 04

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Chromosome 17

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
CACD, CACD1;
215500
17p13 dominant central areolar choroidal dystrophy [Gene] linkage mapping Hughes 98; Lotery 96
RCD2;
601777
same as GUCY2D dominant cone-rod dystrophy, progressive; recessive cone-rod dystrophy [Gene] linkage mapping, mutation screening; a CORD family was mapped to this region and incorrectly called "CORD5", but was later found to have a GUCY2D mutation; the original CORD5 family has a mutation in PITPNM3 Balciuniene 95; Köhn 07; Payne 99; Small 95; Small 96; Udar 03
GUCY2D, CORD6, LCA1, RETGC, RETGC1;
120970, 204000, 600179, 601777
17p13.1 recessive Leber congenital amaurosis; dominant cone-rod dystrophy; protein: retinal-specific guanylate cyclase [Gene] linkage mapping, candidate gene; North African and other families; causes 10 to 20% of recessive LCA and up to 40% of dominant COD or CORD; same gene affected in rd/rd chicken; lentiviral expression of GUCY2D restores vision in this model; most mutations causing COD or CORD are found in codon 838 (arginine) and arise on different haplotypes Camuzat 95; Camuzat 96; Hanein 04; Kelsell 97; Kelsell 98a; Kitiratschky 08; Lotery 00; Payne 01; Perrault 96; Perrault 98; Semple-Rowland 98; Williams 06
AIPL1, LCA4;
204000, 604392, 604393
17p13.2 recessive Leber congenital amaurosis; dominant cone-rod dystrophy; protein: arylhydrocarbon-interacting receptor protein-like 1 [Gene] linkage mapping, candidate gene; locus distinct from CORD5 and RP13; accounts for 5 to 10% of recessive LCA; expression limited to photoreceptors and pineal gland; protein may be involved in nuclear transport or chaperone activity and localizes to rods only, from inner segments through outer plexiform layer Hameed 00; Hanein 04; Sohocki 99; Sohocki 00; van der Spuy 02
PITPNM3, CORD5, NIR1;
120970, 600977, 608921
17p13.2 dominant cone-rod dystrophy; protein: phosphatidylinositol transfer membrane-associated family member 3 [Gene] linkage mapping, candidate gene; CORD5 was originally mapped in a Swedish family, one of two later found to have a missense mutation in PITPNM3; protein is involved in phospholipid transport and photoreceptor membrane renewal; mutations in the homologous Drosophila gene cause retinal degeneration B (rdgB) Balciuniene 95; Köhn 07
PRPF8, PRPC8, RP13;
600059, 607300
17p13.3 dominant retinitis pigmentosa; protein: human homolog of yeast pre-mRNA splicing factor C8 [Gene] linkage mapping, candidate gene; South African and European families; highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex including PRPF3 (RP18), PRPF6 and PRP31 (RP11) Goliath 95; Greenberg 94; Kojis 96; McKie 01; Tarttelin 96
CORD4  17q cone-rod dystrophy [Gene] proposed association with neurofibromatosis; with limited supporting evidence and never confirmed; presumed dominant acting Klystra 93
UNC119, HRG4;
604011
17q11.2 dominant cone-rod dystrophy; protein: human homolog of C. elegans unc119 protein [Gene] candidate gene; missense mutation in one family; UNC119 is a photoreceptor synaptic protein homologous to C. elegans neuroprotein unc119; protein localizes to rod and cone ribbon synapses Kobayashi 00
GPR179, CSNB1E;
310500, 614515, 614565
17q12 recessive complete congenital stationary night blindness; protein: G protein-coupled receptor 179 [Gene] animal model, whole-exome sequencing; mutations in several independently-ascertained families; homozygous GPR179 mutation in the nob5 mouse; GPR179 is a G protein-coupled receptor expressed in retinal bipolar cells; CSNB patients have reduced or absent b-wave response as a result of bipolar cell abnormalities, consistent with the function of GRP179 protein Audo 12; Peachey 12
MKS1, BBS13;
209900, 249000, 609883
17q22 recessive Bardet-Biedl syndrome; recessive Meckel syndrome; protein: Meckel syndrome type 1 protein [Gene] candidate gene; a pair of recessive MKS1 mutations in a Turkish BBS patient and heterozygous variants in patients with mutations in other BBS genes suggest that MKS1 mutations can be a primary cause of BBS, may cause digenic disease, and may modify clinical expression; Meckel syndrome is a severe congenital disease including brain malformations, kidney and liver disease, and polydactyly; MKS1 protein is a component of the flagellar basal body Kyttälä 06; Leitch 08
CA4, RP17;
600852, 114760
17q23.2 dominant retinitis pigmentosa; protein: carbonic anhydrase IV [Gene] linkage mapping, candidate gene; mutations in CA4 may cause the RP17 form of RP but there is doubt - the original Arg14Trp "mutation" is found in 4% of Swedish controls and no additional mutations have been reported to segregate with disease; same chromosomal site as dog prcd progressive rod-cone degeneration; carbonic anhydrases are Zn-containing enzymes that catalyze hydration of carbon dioxide; CA4 protein is a membrane-anchored enzyme found in pulmonary capillaries, proximal renal tubules and retinal choriocapillaris Acland 98; Alvarez 07; Bardien 95; Bardien-Kruger 99; den Hollander 99; Inglehearn 98; Köhn 08; Rebello 04
RGS9;
604067
17q24.1 recessive delayed cone adaptation; protein: regulator of G-protein signalling 9 [Gene] candidate gene; homozygous mutations in several unrelated patients with slow cone adaptation to sudden light changes (bradyopsia); rods in knockout mice show slowed flash recovery; protein forms a heterotrimeric complex with R9AP and is a photoreceptor-specific member of a family of proteins that deactivate transducins Chen 00; He 98; Nishiguchi 04
PRCD, RP36;
268000, 610598, 610599
17q25.1 recessive retinitis pigmentosa; protein: progressive rod-cone degneration protein [Gene] animal model, candidate gene; a single homozygous missense change accounts for recessive prcd in many dog breeds; the same mutation, Cys2Tyr (TGC→TAC), is found in a Bangladesh individual with recessive RP; the PRCD transcript is expressed throughout the retina and at much lower levels in other tissues; protein of unknown function; additional consanguineous Israeli Arab family Goldstein 06; Nevet 10; Zangerl 06
USH1G, SANS;
276900, 606943, 607696
17q25.1 recessive Usher syndrome; protein: human homolog of mouse scaffold protein containing ankyrin repeats and SAM domain [Gene] linkage mapping, candidate gene; consanguineous Pakistani family from Jordan; linkage region overlaps isolated deafness loci DFNA20 and DFNA26; mutations in mouse Sans cause Jackson shaker (js) phenotype with deafness and vestibular dysfunction; SANS associates with the USH1C protein as part of hair cell bundles Kikkawa 03; Mustapha 02a; Weil 03
FSCN2, RP30;
607643, 607921
17q25.3 dominant retinitis pigmentosa; dominant macular dystrophy; protein: retinal fascin homolog 2, actin bundling protein [Gene] candidate gene; mutations in FSCN2 may cause RP and/or MD but there is doubt - the 208delG "mutation" is a benign polymorphism in Asians (in heterozygotes) and no additional, pathogenic mutations have reported; the FSCN2 protein is a photoreceptor-specific paralog of fascin which crosslinks and bundles f-actin Bardien-Kruger 99; Tubb 00; Wada 01; Wada 03; Zhang 07a
PDE6G, RP57;
180073, 268000, 613582
17q25.3 recessive retinitis pigmentosa; protein: phosphodiesterase 6G cGMP-specific rod gamma [Gene] homozygosity mapping, candidate gene; homozygous splice-site mutation in a large, consanguineous Arab Israeli family; symptoms include early-onset RP with macular involvement; PDE6G is an inhibitory subunit of cGMP phosphodiesterase, a key enzyme complex in phototransduction Dvir 10

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Chromosome 18

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
OPA4;
165500, 605293
18q12.2-q12.3 dominant optic atrophy, Kjer type [Gene] linkage mapping; American family of German descent; previously linked to Kidd blood group Kerrison 99; Kivlin 83
CORD1;
120970, 600624
18q21.1-q21.3 cone-rod dystrophy; de Grouchy syndrome [Gene] deletion mapping; isolated case; symptoms include COD, retardation and hearing impairment Manhant 95; Warburg 91

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Chromosome 19

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
C3, ARMD9, ASP;
120700, 603075, 611378
19p13.3 age-related macular degeneration, complex etiology; protein: complement component 3 [Gene] association study; the Arg80Gly polymorphism in C3 (rs22230199, also called Arg102Gly) is associated with AMD in English and Scottish populations; homozygotes for the glycine allele have a 2-to-3 fold increase in life-time risk; the arginine and glycine alleles produce the "slow" and "fast" C3 alleles, respectively; the Gly allele has a 17% frequency in Caucasians but is rare or absent from Africans and Asians; AMD is also associated with complement genes C2, CFB and CHF Maller 07; Yates 07
RAX2, ARMD6, CORD11, QRX, RAXL1;
120970, 610362, 610381
19p13.3 cone-rod dystrophy, isolated; age-related macular degeneration, isolated; protein: retina and anterior neural fold homeobox 2 transcription factor [Gene] candidate gene; RAX2 protein is a modulator of photoreceptor gene expression, present in human and bovine genomes but not, apparently, in the mouse genome; three different, heterozygous, mutations found in two isolated CORD patients and one AMD patient; mode of inheritance unknown Wang 04
RGS9BP, R9AP, RGS9;
607814
19q13.12 recessive delayed cone adaptation; protein: regulator of G-protein signalling 9-binding protein [Gene] candidate gene; homozygous mutations in several unrelated patients with slow cone adaptation to sudden light changes (bradyopsia); protein binds to and is a regulator of RGS9, a photoreceptor-specific member of a family of proteins that deactivate transducins Hu 02; Nishiguchi 04
MCDR5  19q13.31-q13.32 dominant macular dystrophy linkage mapping; mapping in a large Greek family Yang 06a
CRX, CORD2, LCA7;
120970, 204000, 268000, 602225, 613829
19q13.32 dominant cone-rod dystrophy; recessive, dominant and de novo Leber congenital amaurosis; dominant retinitis pigmentosa; protein: cone-rod otx-like photoreceptor homeobox transcription factor [Gene] linkage mapping, candidate gene; meiotic drive suggested; CRX also activates pineal genes; interacts with NRL; Crx-deficient mice have diminished circadian entrainment; causes 1 to 3% of LCA; 1 bp CRX deletion in Rdy cat with dominant rod-cone dysplasia Bellingham 97; Evans 94; Evans 95; Freund 97; Freund 98; Furukawa 99; Gregory 94; Hanein 04; Li 98; Lotery 00; Menotti-Raymond 10; Sohocki 98; Swain 97; Swaroop 99
OPA3, MGA3;
165300, 165500, 258501, 606580
19q13.32 recessive optic atrophy with ataxia and 3-methylglutaconic aciduria; dominant optic atrophy with cataract, ataxia and areflexia; protein: OPA3 protein [Gene] linkage mapping, candidate gene; Iraqi-Jewish and other families; protein may play a role in mitochondrial processes; ubiquitously expressed, predominantly in skeletal muscle, kidney and brain; also called Costeff optic atrophy syndrome; symptoms related to 3-methylglutaconic aciduria include early-onset optic atrophy, cognitive deficit, extrapyramidal abnormalities, ataxia and spastic paraplegia Anikster 01; Ayrignac 12; Nystuen 98
PRPF31, PRP31, RP11;
600138, 606419
19q13.42 dominant retinitis pigmentosa; protein: human homolog of yeast pre-mRNA splicing factor 31 [Gene] linkage mapping, candidate gene; incomplete penetrance and bimodal severity result from variable expression of alleles in trans; large deletions in PRPF31, not detectable by sequencing, account for 2.5% of dominant RP; highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex including PRPF3 (RP18), PRPF6 and PRPF8 (RP13); an intronic SNP in CONT3 contributes to incomplete expression Al-Maghtheh 94; Al-Maghtheh 96; McGee 97; Sullivan 06a; Venturini 12; Vithana 98; Vithana 01; Vithana 03

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Chromosome 20

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
JAG1, AGS;
118450, 601920
20p12.2 dominant Alagille syndrome; protein: Jagged protein 1 [Gene] deletion mapping, candidate gene; multiple affected organs including chorioretinal atrophy and retinal pigment changes; Jagged is the ligand for Notch proteins, involved in cell-cell interactions Hol 95; Li 97; Oda 97; Oda 97a; Schnittger 89
MKKS, BBS6;
209900, 236700, 604896
20p12.2 recessive Bardet-Biedl syndrome; protein: McKusick-Kaufman syndrome protein [Gene] linkage mapping, candidate gene; MKKS mutations also cause McKusick-Kaufman syndrome with multiple congenital and developmental anomalies in Old Order Amish families; protein has sequence similarity to chaperonins; often involved in triallelic inheritance: two BBS2 alleles and a third BBS1, BBS4 or MKKS allele Beales 01; Katsanis 00; Katsanis 01; Slavotinek 00; Stone 98a; Stone 00
IDH3B, RP46;
268000, 604526, 612572
20p13 recessive retinitis pigmentosa; protein: NAD(+)-specific isocitrate dehydrogenase 3 beta [Gene] expression mapping; unique identification based on reduced mRNA expression in lymphoblasts; two families with low or absent expression; isocitrate dehydrogenase catalyzes conversion of isocitrate to α-ketogluterate in the citric acid cycle (Krebs cycle); the Krebs cycle is localized to mitochondria, further confirming the role of mitochondria in retinal diseases; no additional symptoms were observed in the RP patients Hartong 08
PANK2, HARP, PKAN;
234200, 606157, 607236
20p13 recessive HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and palladial degeneration); recessive Hallervorden-Spatz syndrome; protein: pantothenate kinase 2 [Gene] homozygosity mapping, candidate gene; symptoms are highly variable including progressive rigidity, pigmentary retinopathy, iron deposits in the palladium, and neurological disorders; PANK2 mutations account for at least 66% of affected families, with deletions in 4%; the PANK2 gene is ubiquitously expressed and the protein is an essential enzyme in CoA biosynthesis, catalyzing phosphorylation of pantothenate; Hallervorden's name is no longer associate with this syndrome because of his role in eugenics Ching 02; Hartig 06; Hayflick 03; Houlden 03; Taylor 96; Zhou 01
PRPF6, RP60;
268000, 613979, 613983
20q13.33 dominant retinits pigmentosa; protein: human homolog of yeast pre-mRNA splicing factor 6 [Gene] candidate gene; missense mutation in one dominant RP family among 188 screened; mutation affects PRPF6 protein localization in patient-derived cells; highly-conserved, ubiquitously-expressed member of the U4/U6-U5 tri-snRNP particle complex including PRPF3 (RP18), PRPF8 (RP13) and PRP31 (RP11) Tanackovic 11

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Chromosome 21

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
USH1E;
276900, 602097
21q21 recessive Usher syndrome, type 1 [Gene] linkage mapping Chäib 97
C21orf2;
603191
21q22.3 recessive cone-rod dystrophy; protein: chromosome 21 open reading frame 2 [Gene] homozygosity mapping, whole-exome sequencing; rare, novel homozygous frame-shift mutation in an isolated Saudi CORD patient and a novel homozygous splice-site mutation in a second isolated Saudi CORD patient; protein of unknown function Abu-Safieh 13

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Chromosome 22

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
OPA5;
165500, 610708
22q12.1-q13.1 dominant optic atrophy [Gene] linkage mapping; two French families with phenotypes similar to OPA1 Barbet 05
TIMP3, SFD;
136900, 188826
22q12.3 dominant Sorsby's fundus dystrophy; protein: tissue inhibitor of metalloproteinases-3 [Gene] linkage mapping, candidate gene; model for ARMD; common British mutation; vitamin A reverses night blindness Felbor 95; Felbor 97; Jacobson 95; Peters 95; Stöhr 95; Weber 94; Weber 94b; Wijesuriya 96
VRD1  22q13 recessive vitreoretinal dystrophy homozygosity mapping; the disease locus in a Swiss, multiplex family maps to 22q13, a region containing FBLN1, but no mutations were found in FBLN1 Weigell-Weber 03

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X Chromosome

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
OFD1, RP23;
300170, 300209, 300424, 300804, 311200
Xp22.2 Jobert syndrome; orofaciodigital syndrome 1, Simpson-Golabi-Behmel syndrome 2; X-linked retinitis pigmentosa, severe; protein: oral-facial-digital syndrome 1 protein [Gene] linkage mapping, candidate gene; a frameshift mutation causes Jobert syndrome in a Malaysian family with unaffected carrier females but severely affected males; symptoms include RP, polydactyly, brain and facial abnormalities, development delay and breathing problems; targeted genomic next-generation sequencing also uncovered a deep intronic mutation in a family with severe X-linked RP (the RP23 locus); OFD1 is a centrosomal protein which interacts with other ciliopathy-associated proteins including lebercilin (LCA5) and SDCCAG8 Coene 09; Hardcastle 00; Webb 12
RS1, XLRS1;
312700
Xp22.13 retinoschisis; protein: retinoschisin [Gene] linkage mapping, candidate gene; retinoschisin contains a large discoidin domain; expression is limited to photoreceptors but protein is secreted into the inner retina Bergen 93a; Grayson 00; Huopaniemi 97; Retinoschisis 98; Sauer 97; Sieving 90
(- - -)  Xp21-q21 retinitis pigmentosa with mental retardation linkage mapping; may be contiguous gene syndrome including RP2 Aldred 94
RP6;
312612
Xp21.3-p21.2 X-linked retinitis pigmentosa [Gene] linkage mapping; distinct from RP2 and RP3 Breuer 00; Musarella 90; Ott 90
DMD;
310200
Xp21.2-p21.1 Oregon eye disease (probably); protein: dystrophin [Gene] candidate gene; exons 20-28 involved in retinal disease D'Souza 95; Pillers 93; Ray 92
OPA2;
165500, 311050
Xp11.4-p11.2 X-linked optic atrophy [Gene] linkage mapping; large Dutch family Assink 97
NYX, CSNB1, CSNB1A, CSNB4;
300278, 310500
Xp11.4 X-linked congenital stationary night blindness; protein: nyctalopin [Gene] linkage mapping, candidate gene; nyctalopin is an extracellular glycosylphosphatidyl (GPI)-anchored member of the small leucine-rich proteoglycan (SLRP) protein family; expressed in several tissues but more abundant in retina and kidney; NYX mutations are found in a majority of X-linked complete-CSNB patients; NYX mutation found in the original CSNB4 family ('CSNB4' also refers to rhodopsin) Bech-Hansen 00; Bergen 95; Boycott 98; Gal 89; Hardcastle 97; Musarella 89; Pusch 00
COD1;
304020
same as RPGR X-linked cone dystrophy 1 linkage mapping, mutation screening; locus remapped and deletions in ORF15 of RPGR detected Bartley 89; Bergen 93; Dash-Modi 96; Demirci 02; Hong 94; Meire 94; Seymour 98; Yang 02
RP15;
300029
same as RPGR X-linked retinitis pigmentosa, dominant linkage mapping, mutation screening; locus remapped and de novo insertion in ORF15 of RPGR detected; 'RP15' withdrawn McGuire 95a; Mears 00
RPGR, CORDX1, RP3;
300029, 304020, 312610
Xp11.4 X-linked retinitis pigmentosa, recessive; X-linked retinitis pigmentosa, dominant; X-linked cone dystrophy 1; X-linked atrophic macular dystrophy, recessive; protein: retinitis pigmentosa GTPase regulator [Gene] linkage mapping, candidate gene; mutations are found in 70% of RP3 cases, with dominant mutations in ORF15 (a mutation hot spot); same gene affected in XLPRA dog; exceptionally heterogeneous, retina-specific alternate splicing; RPGR mutations account for at least 15% of male sporadic (isolated) RP cases; protein is similar to RCC1, and interacts with IQCB1, PDE6D and RPGRIP1; species differences in subcellular localization; rare association with hearing loss and recurrent infections Andréasson 97; Ayyagari 02; Bader 03; Branham 12; Buraczynska 97; Fujita 97; Kirschner 99; Linari 99; Mavlyutov 02; Meindl 96; Musarella 90; Ott 90; Pelletier 06; Roepman 96; Roepman 96a; Rozet 02; Vervoort 00; Yang 02; Zeiss 00; Zhang 02; Zito 03
PRD;
312550
Xp11.3-p11.23 retinal dysplasia, primary [Gene] linkage mapping; linked to Norrie disease, may be same locus Ravia 93
NDP, EVR2;
133780, 300658, 305390, 310600
Xp11.3 Norrie disease; familial exudative vitreoretinopathy; Coats disease; protein: Norrie disease protein (norrin) [Gene] linkage mapping, candidate gene; expressed in multiple tissues; some mutations cause FEVR but evidence of genetic heterogeneity; associated with retinopathy of prematurity; somatic mutation causes Coats disease; NDP, FZD4, LRP5 and TSPAN12 proteins are components of Wnt signaling pathways involved in cell adhesion and migration including retinal angiogenesis Berger 92; Berger 92a; Black 99; Chen 92; Chen 93; Chen 93a; Fuchs 94; Fuchs 96; Fullwood 93; Gal 85; Isashiki 95; Meindl 92; Meindl 95; Rehm 97; Schuback 95; Shastry 95; Shastry 97; Shastry 97a; Shastry 97b; Strasberg 95
AIED, OA2;
300600
same as CACNA1F Åland island eye disease [Gene] linkage mapping; CACNA1F mutations found in ÅIED-like patients and later in the original ÅIED family Alitalo 91; Glass 93; Jalkanen 07; Schwartz 91; Wutz 02
CACNA1F, CORDX3, CSNB2, CSNB2A, CSNBX2;
300071, 300110, 300476, 300600, 310500
Xp11.23 X-linked congenital stationary night blindness, incomplete; ÅIED-like disease; severe congenital stationary night blindness; X-linked progressive cone-rod dystrophy; protein: L-type voltage-gated calcium channel alpha-1 subunit [Gene] linkage mapping, candidate gene; founder mutation in Mennonites; CACNA1F mutations are found in 60 to 90% of X-linked incomplete-CSNB patients; retina-specific expression with synaptic localization of protein; mutations in ÅIED-like patients and later found in the original ÅIED family; associated with optic atrophy in a Japanese family; the CORDX3 locus in a Finish family later identified as a CACNA1F mutation Aldred 92; Bech-Hansen 92; Bech-Hansen 98; Berger 95; Boycott 01; Hope 05; Jalkanen 03; Jalkanen 06; Jalkanen 07; Morgans 01; Nakamura 03; Strom 98; Wutz 02
RP2;
312600
Xp11.23 X-linked retinitis pigmentosa; X-linked retinitis pigmentosa, dominant; protein: retinitis pigmentosa 2 (X-linked) [Gene] linkage mapping, candidate gene; human cofactor C is involved in beta-tubulin folding; accounts for 10% of XlRP in European and North American families; affected "carrier" females in at least one family; novel protein similar to human cofactor C Bhattacharya 84; Hardcastle 99; Mears 99; Pomares 09; Schwahn 98; Teague 94; Thiselton 96
PGK1;
300653, 311800
Xq21.1 retinitis pigmentosa with myopathy; protein: phosphoglycerate kinase [Gene] candidate gene; one case only - RP is not usually found with PGK deficiency Tonin 93
CHM;
303100
Xq21.2 choroideremia; protein: geranylgeranyl transferase Rab escort protein 1 [Gene] linkage mapping, candidate gene; ubiquitously expressed protein (REP2 can substitute); attaches isoprenoids to Rab (e.g., Rab 27) proteins Andres 93; Beaufrère 96; Cremers 90; Nussbaum 85; Seabra 93; van Bokhoven 94; van Bokhoven 94a; van den Hurk 92; van den Hurk 97
TIMM8A, DDP, DDP2, DFN1;
300356, 304700, 311150
Xq22.1 optic atrophy with deafness-dystonia syndrome; protein: inner mitochondrial membrane translocase 8 homolog A [Gene] linkage mapping, candidate gene; symptoms include progressive optic nerve atrophy, nerve deafness and dementia; also known as Mohr-Tranebjaerg or Jensen syndrome; protein involved in transport of metabolites into mitochondria Jin 96; Koehler 99; Tranebjaerg 95
RP24;
300155
Xq26-q27 X-linked retinitis pigmentosa [Gene] linkage mapping; single large family; RP2, RP3 and RP15 excluded Gieser 98
COD2, CORDX2;
300085
Xq27 X-linked progressive cone dystrophy 2 [Gene] linkage mapping Bergen 97
RP34;
300605
Xq28-qter X-linked retinitis pigmentosa [Gene] linkage mapping; maximum lod score of 2.2 in one family, RP24 excluded Melamud 06
OPN1LW, BCM, CBP, COD5, RCP;
303700, 303900
Xq28 deuteranopia and rare macular dystrophy in blue cone monochromacy with loss of locus control element; protein: green cone opsin [Gene] candidate gene; one to five copies 3' to red pigment gene or more complex organization; absence of both OPNL1LW and OPNMW, either as a result of mutations in the genes or mutations in the locus control element, cause blue-cone monochromacy (blue cones only), also called cone dystrophy 5 Ayyagari 99; Nathans 86; Nathans 92; Neitz 95; Winderickx 92
OPN1MW, CBD, GCP;
303700, 303800
Xq28 protanopia and rare macular dystrophy in blue cone monochromacy with loss of locus control element; protein: red cone opsin [Gene] candidate gene; Ala180Ser polymorphism with spectral shift; absence of both OPNL1LW and OPNMW, either as a result of mutations in the genes or mutations in the locus control element, cause blue-cone monochromacy (blue cones only), also called cone dystrophy 5 Ayyagari 99; Nathans 86; Nathans 92

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Mitochondrion

Symbols;
OMIM Numbers
Location Diseases;
Protein
How Identified;
Comments
References
KSS;
530000
mitochondrion Kearns-Sayre syndrome including retinal pigmentary degeneration; protein: several mitochondrial proteins [Gene] sequencing; multiple large deletions OMIM 14; Puddu 93; Wallace 99
LHON;
535000
mitochondrion Leber hereditary optic neuropathy; protein: complex I, III or IV proteins [Gene] sequencing; three mutations (MTND1-3460, MTND4-11778 and MTND6-14484) account for 95% of European cases and one (11778) for 80% of Japanese cases; penetrance influenced by mtDNA haplotype; uncertain role of rare variants; spontaneous recovery possible Brown 92; Brown 97; Hofmann 97; Howell 97; Howell 98; Huoponen 93; Mashima 93; Nikoskelainen 96; OMIM 14; Riordan-Eva 95; Torroni 97; Wallace 88
MT-TL1, DMDF, TRNL1;
520000, 590050
mitochondrion macular pattern dystrophy with type II diabetes and deafness; protein: leucine tRNA 1 (UUA/G), nt 3230-3304 [Gene] sequencing; one of two mitochondrial leucine tRNAs; often caused by heteroplasmic A3243G mutation; other mutations can cause a similar disease Bonte 97; Harrison 97; Massin 95; Michaelides 08; van den Ouweland 92
MT-ATP6, ATP6, NARP;
516060, 551500
mitochondrion retinitis pigmentosa with developmental and neurological abnormalities; Leigh syndrome; Leber hereditary optic neuropathy; protein: complex V ATPase 6 subunit, nt 8527-9207 [Gene] sequencing; symptoms include developmental delay, neuropathy, ataxia and RP, with or without optic atrophy; RP found primarily with T8993G (Leu156Arg) mutation Holt 90; Lamminen 95; Santorelli 93; White 99
MT-TH, TRNH;
590040
mitochondrion pigmentary retinopathy and sensorineural hearing loss; protein: histidine tRNA, nt 12138-12206 [Gene] sequencing; Italian family with heteroplasmic mutation and variable additional findings; another MTTH mutation is associated with cardiomyopathy Crimi 03
MT-TS2, TRNS2;
500004, 590085
mitochondrion retinitis pigmentosa with progressive sensorineural hearing loss; protein: serine tRNA 2 (AGU/C), nt 12207-12265 [Gene] linkage mapping, sequencing; one of two mitochondrial serine tRNAs; Irish family; previously mapped to 9q as RP21 Mansergh 99
MT-TP, TRNP;
590075
mitochondrion retinitis pigmentosa with deafness and neurological abnormalities; protein: proline tRNA, nt 15955-16023 [Gene] sequencing; isolated patient with a hetroplasmic C to A substitution at nucleotide 15975; other MT-TP mutations associated Parkinson disease and/or myopathy Da Pozzo 09

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Supported by The Foundation Fighting Blindness, The George Gund Foundation, and the Hermann Eye Fund.

©1996-2014, Stephen P. Daiger, PhD and The University of Texas Health Science Center, Houston, Texas